Melorheostosis Author: Patrick O'Donnell

Introduction

benign painful disorder of the extremities characterized by formation of periosteal new bone

demographics o usually presents before age 40 o no sex predilection location o more common in the lower extremities, but can occur in any bones

non-hereditary Presentation Symptoms o pain o reduced range of motion o joint contractures Physical exam o fibrosis of the skin with significant induration and erythema is common o reduced range of motion o painful hyperostoses Imaging Radiographs cortical hyperostosis

o o

dripping candle wax appearance with dense hyperostosis that flows along the cortex of the bone hyperostosis may flow across joints

Studies Histology normal haversian systems with enlarged bone trabeculae and without cellular atypia or mitotic figures

Treatment Nonoperative o symptomatic treatment indications mild symptoms with adeqate motion Operative o hyperostotic bone resection with contracture release indications severe contractures, limited mobility, and pain Qbank (1 Questions) (OBQ11.242) A 55-year-old military officer presents with greater than one year of generalized foot pain. On a recent physical examination, he was found to have an elevated prostate specific antigen (PSA), but is otherwise healthy. Radiograph, CT scan, bone scan, and histology slide are shown in Figures A through D. What is the most likely diagnosis? Review Topic FIGURES: A B C D

1. 2. 3.

Metastatic prostate cancer Periosteal osteosarcoma Melorheostosis

4.

Spindle cell sarcoma of bone

5. Healing stress fracture of the second metatarsal PREFERRED RESPONSE 3 DISCUSSION: The radiographs, CT scan, bone scan, and histology slide are consistent with a diagnosis of melorheostosis, a rare, developmental dysplasia of cortical bone characterized by a "flowing hyperostosis" (Illustration A & B). While melorheostosis is most common in the long bones, its occurrence in the foot has been documented in the literature. The radiographs show a non-aggressive sclerosis of the second metatarsal with complete obliteration of the intramedullary canal on CT scan. While the bone scan is "hot" this isn't a marker for malignancy in this case given the generalized increased osteoblastic activity seen with melorheostosis. The histology slide shows a sheet of bland osteoid without any malignant cellular features in the stroma. Jain et al review the clinical features, diagnosis, and management of patients with melorheostosis. They describe that while this is a benign condition, the hyperactive osteoid formation can often lead to limb malalignment or joint contracture requiring surgical intervention. Gagliardi and Mahan review the literature and diagnosis of melorheostosis and describe their management of two patients with this diagnosis. One patient, a 10-year-old with metatarsus adductus secondary to melorheostosis required multiple bi-planar metatarsal osteotomies to correct his deformity (Illustrations C and D). Incorrect answers: 1,2,3) The histology slide does not show carcinoma, malignant osteoid, nor malignant spindle cells. 5) The radiographs do not show a fracture. Illustrations: A B C D

REFERENCES: 1. Jain VK, Arya RK, Bharadwaj M, Kumar S. Melorheostosis: clinicopathological features, diagnosis, and management. Orthopedics. 2009 Jul;32(7):512. doi: 10.3928/0147744720090527-20. Review. PMID:19634844 (Link to Abstract) 2. Gagliardi GG, Mahan KT. Melorheostosis: a literature review and case report with surgical considerations. J Foot Ankle Surg. 2010 Jan-Feb;49(1):80-5. PMID:20123294 (Link to Abstract)

Heterotopic Ossification Author: Colin Woon

Introduction Formation of bone in atypical, extraskeletal tissues o usually occurs spontaneously or following trauma within 2 months of neurologic injury (brain or spinal cord) o most common location is between muscle and joint capsule Epidemiology o incidence (see table below) o location traumatic brain injury or stroke hip > elbow > shoulder > knee elbow HO more common following brain trauma

occurs on affected (spastic) side rarely in the knee (TBI) spinal cord injury hip > knee > elbow > shoulder hip flexors and abductors > extensors or adductors medial aspect of the knee o risk factors (see table below) Pathophysiology o exact cause of HO is not known but there appears to be a genetic disposition o experimental HO associated with tissue expression of BMP Associated conditions o orthopaedic manifestations pathologic fractures from decreased joint ROM and osteoporotic bone nerve impingement

soft tissue contractures, contributing to the formation of decubitus ulcers CRPS (more common in patients with HO) joint ankylosis HO after THA adversely affects outcome of THA o nonorthopaedic conditions skin maceration and hygiene problems Risk Factors for Heterotopic Ossification Injury severity score (ISS) 11% Higher incidence in the spastic limbs Traumatic brain injury (TBI) 11% of the patient Spinal cord injury Completeness of SCI (complete SCI 20% produces more HO than incomplete SCI). Cervical and thoracic SCI produces more HO than lumbar SCI. Younger age produces more HO (2030yo). Higher incidence in the spastic limbs of the patient. Prolonged coma in young patient (20Neurologic compromise 30yo) 70% (with Worse with concomitant decubitus Decubitus ulcers concomitant ulcers and SCI or TBI SCI) Antegrade femoral nail entry Worse with piriformis fossa entry 25% site point. Distal femur traction pins HO in distal quadriceps. Higher rare incidence in patients with other concomitant injuries, use of large diameter Steinmann pins (5mm). Thought to be because of local hematoma, soft tissue injury from percutaneous insertion. Amputation thru zone of injury Worse with blast mechanism 63% Surgical approaches Extended iliofemoral > KocherLangenbeck > ilioinguinal approach (acetabular fracture). Direct lateral Hardinge approach for total hip arthroplasty. Anterior approach > posterior approach for femoral head fracture fixation. THA Complications 25% (acetabular fracture fixation)

Total hip arthroplasty

53% (significant in only 5%)

Total knee arthroplasty

TKA complications

THA Complications Author: Mark Karadsheh Introduction Complications following THA include nerve palsies (see below) limb length discrepancy iliopsoas impingement heterotopic ossification blood transfusion Sciatic Nerve Palsy

epidemiology o uncommon (0-3%), but potentially devastating complication following THA o peroneal division of sciatic nerve most commonly affected (80%) sciatic nerve travels closest to acetabulum at level of ischium must avoid posterior acetabular retraction when hip in flexed position o less commonly affected nerves include femoral obturator superior gluteal causes o compression (most common) due to hematoma retraction tight bandages o direct trauma o heat from polymethylmethacralate polymerization o unknown (40%) risk factors o for motor nerve palsies include developmental dysplasia of the hip revision surgery female gender limb lengthening posttraumatic arthritis surgeon self-rated procedure as difficult prognosis o only 35% to 40% recover full strength after complete palsy post-operative complaints of numbness, paresthesias, or weakness post-operative CT o may be helpful if hematoma suspected ultrasound o may be helpful if hematoma suspected EMGs
o

may be used post-operatively to confirm level of injury and guide discussion with patient regarding prognosis

immediate postoperative o place hip in extension and knee in flexion indications immediate post-operative palsy technique decreases tension along sciatic nerve o immediate excavation in operating room indications post-operative hematoma persistent foot drop o AFO orthosis indications first line of treatment for persistent foot drop Limb length discrepancy Introduction most common reason for litigation following total hip arthroplasty

operative limb lengthening most common functional, but transient, limb-length differences are common o weak abductors may provide the sensation of a long leg in the absence of true LLD o usually resolve within 3-6 months post-operatively symptoms o patient may feel perceived LLD despite anatomic equality physical exam o post-operative assessment of limb-length discrepancy true limb length measured from anterior superior iliac spine to medial malleolus apparent limb length determined by adding effect of soft-tissue contractures and pelvic obliquity difficult to truly measure radiographic measurement of leg-length discrepancy increasing neck length will increase limb length increasing femoral offset will not increase limb length

shoe-lift o indications shoe-lift treatment adequate in most cases wait 6 months until treatment to allow adequate relaxation of muscles Prevention pre-operative planning reduces incidence of post-operative discrepancies Iliopsoas impingement

underrecognized cause of recurrent groin pain after total hip replacement may be caused by o retained cement

o o o

malpositioned acetabular component limb length discrepancy excessive length of screws

symptoms o groin pain

diagnostic cortisone injection into iliopsoas sheath is helpful in diagnosis Treatment nonoperative o most patients require operative intervention for complete resolution of symptoms operative o iliopsoas tenotomy or resection indications in cases of normal post-op radiographs o acetabular component revision indications in cases of excessive anterior cup overhang Heterotopic Ossification

frequent complication that may limit functional outcome following hip replacement risk factors o prolonged surgical time o excessive soft tissue handling during procedure o hypertrophic osteoarthritis o male gender surgical excision o indications severe loss of motion once heterotopic ossification is visible on radiographs, only surgical excision will eradicate o technique must wait 6 months after initial procedure to allow for maturation and formation of capsule perioperative prophylaxis with perioperative radiation or NSAIDs

oral indomethacin radiation therapy o 600-800 Gy administered ideally within 24-48 hours following procedure Postoperative Transfusions Low preoperative hemoglobin o is the best predictor of the need for a blood transfusion postoperatively Qbank (16 Questions) (OBQ12.164) A 45-year-old man has had the gait disturbance shown in Video A ever since a total hip replacement two years ago. Since then he has undergone physical therapy and nerve exploration without any clinical improvement. Extensive AFO bracing was attempted but was

not tolerated by the patient. A recent ankle radiograph is shown in Figure A. The Silfverskiold test reveals dorsiflexion of 20 degrees with knee flexion, and 10 degrees with full knee extension. The results of muscle testing using a Cybex dynamometer are shown in Figure B. What is the most appropriate next step in in treatment. Review Topic FIGURES: V A B 1. Ankle arthrodesis in 30 degrees of dorsiflexion

2. Posterior tibial tendon transfer to the lateral cuneiform through the interosseous membrane 3. 4. 5. Split anterior tibial tendon transfer to the cuboid Peroneus longus transfer to the navicular and gastrocnemius recession Flexor hallucis transfer to the navicular and tendo Achilles lengthening (TAL)

PREFERRED RESPONSE 2 DISCUSSION: The clinical presentation is consistent with a sciatic neuropathy following THA in a patient that does not tolerate AFO bracing. Posterior tibialis tendon transfer is the next most appropriate step in treatment. Sciatic neuropathy, especially involving the common peroneal branch, is a known complication of total hip arthroplasty. Typically a patient is adequately treated with an AFO. In some clinical situations an AFO is not tolerated, and a tendon transfer is required. The posterior tibial tendon is the most commonly used donor muscles. Rodriguez et al. retrospectively reviewed the results of the Bridle procedure 10 patients (11 feet) with a foot drop. The Bridle procedure consists of a posterior tibial tendon transfer through the interosseous membrane to the dorsum of the foot with a dual anastomosis to the tendon of the anterior tibial and a rerouted peroneus longus in front of the lateral malleolus. In their study all 11 feet were brace-free at final followup at 6.68 years. Yeap et al. retrospectively reviewed 12 patients who were treated with tibialis posterior tendon transfer for footdrop. They found good/excellent patient satisfaction in 10/12 patients. Additionally they found favorable variables for a good outcome include common peroneal nerve palsy over sciatic nerve palsy, male gender less than 30 years of age. Figure V is a Video that shows a right footdrop with high steppage gait. Figure A shows normal ankle radiographs. Figure B shows the results of dynamometer testing described above. Incorrect Answers: Answer 1: There is no arthrosis of the ankle joint and several tendons possess sufficient strength to make a tendon transfer feasible. Tendon transfer should be attempted first. Answer 3: The anterior tibial tendon attaches to the plantar-medial aspect of the medial cuneiform and 1st metatarsal base. This muscle is weak (0/5 power) and transfer of its tendon muscle will not correct footdrop. Answer 4: The peroneus longus attaches to the medial cuneiform and 1st metatarsal (plantarposterolateral aspect). This muscle is weak (2/5 power) and transfer of this tendon will not correct footdrop. Gastrocnemius recession will not increase the effectiveness of this transfer

as there is no gastrocnemius contracture. Answer 5: The flexor hallucis longus is a secondary plantar flexor of the ankle. Its power is not mentioned in the question stem. But it is a less desirable tendon transfer compared with the posterior tibialis tendon. TAL will not increase its effectiveness. TAL is not necessary as there is dorsiflexion to 10degrees past neutral with the knee extended . REFERENCES: 1. Rodriguez RP. The Bridle procedure in the treatment of paralysis of the foot. Foot Ankle. 1992 Feb;13(2):63-9. PMID:1572589 (Link to Abstract) 2. Yeap JS, Birch R, Singh D. Long-term results of tibialis posterior tendon transfer for dropfoot. Int Orthop. 2001;25(2):114-8. PMID:11409449 (Link to Abstract) Colin Woon MD, John Badylak MD, Joshua Blomberg MD, Daniel Farber MD, Classification Subtypes neurogenic HO (discussed here) traumatic myositis ossificans fibrodysplasia ossificans progressiva (Munchmeyer's Disease) Presentation Symptoms o painless loss of ROM o interferes with ADL o CRPS symptoms o fever Physical exam o inspection warm, painful, swollen joint may have effusion skin problems decubitus ulcers from contractures around skin, muscles, ligaments skin maceration and hygiene problems o motion decreased joint ROM joint ankylosis o neurovascular peripheral neuropathy HO often impinges on adjacent NV structures Imaging Radiographs o recommended views Judet view valuable for evaluation of hip HO o findings ossification usually easy to visualize

maturity of HO the appearance of a bony cortex suggests mature HO sharp demarcation from surrounding tissue trabecular pattern o sensitivity and specificity not useful for early diagnosis only useful at 1 week after onset of symptoms calcium is deposited 7-10 days later than symptom onset Ultrasound o indications for early diagnosis of hip HO o findings echogenic surfaces with posterior acoustic shadowing CT o indications useful for preoperative planning Triphasic bone scan o indications best for early diagnosis most commonly used diagnostic study Studies Labs o elevated serum alkaline phosphatase AlkP removes inhibitors of mineralization nonspecific, may be elevated with skeletal trauma cannot determine maturity of HO o elevated CRP correlates with inflammatory activity of HO better than ESR normalization of CRP may correlate with maturity of HO o elevated CK correlates with involvement of muscle, extent of muscle involvement Histology o mature fatty bone marrow o mature trabecular bone Treatment Prophylaxis o bisphosphonates & NSAIDS indications

although no literature supports, are commonly used technique indomethacin is most commonly used dose is 75mg/day for 6 weeks o perioperative radiation indications although no literature supports, commonly used is thought to be effective by blocking osteoblast differentiation technique a single perioperative dose of 700 rad can be given either 4 hours preop or within 72 hours postoperatively Posttraumatic o wide exposure and surgical resection indications severe loss of motion and decreased function technique wide exposure required to identify all neurovascular structures that may be involved timing of resection (controversial) 6 months following general trauma 1 year following SCI 1.5 years following TBI some data suggests equivalent results when comparing early versus late resection postop follow with 5 day course of indomethacin early gentle joint mobilization Arthroplasty o treatment for HO following THA o treatment for HO following TKA Complications Hematoma and intraoperative bleeding Infection o higher rate of infection following joint arthroplasty if HO is present Fractures of osteoporotic bone o osteopenic from disuse o during surgery or physiotherapy Recurrence o recurrence rate correlates with neurological injury greater recurrence if severe neurological compromise AVN o if extensive dissection or stripping is required Qbank (6 Questions) (OBQ12.125) A 24-year-old male presents with a painful, stiff elbow after sustaining an injury 4 months ago. A radiograph is shown in Figure A. Which of the following statements is true about his condition? Review Topic FIGURES: A

1. Early excision has been found to decrease rate of recurrence compared to excision after maturity 2. 3. 4. Radiographs may be used to assess maturity of the lesion Bone scan will always be negative once the lesion is considered mature The lesion is considered mature 12 months after initial radiographic findings are seen

5. Alkaline phosphatase level measurements are used to determine the maturity of the lesion PREFERRED RESPONSE 2 DISCUSSION: Radiographs are extremely useful in the staging of heterotopic ossification, and will show the development of sharp cortical margins once the lesion has reached maturity. Heterotopic bone is a condition in which lamellar bone forms in non-ossified soft tissues. In the early stages, studies such as MRI and bone scan are more sensitive for diagnosis, as radiographs may appear normal for the first three weeks. After the appropriate diagnosis is made, sequential radiographs are useful for monitoring the progression of the ossification. Once it has reached the mature stage, sharp cortical margins will appear, and surgical resection may be considered. Cipriano et al. review heterotopic ossification following traumatic brain and spinal cord injuries. They discuss that the rate of radiographic recurrence is high (82-100%), but that that the rate of clinically significant recurrence is much lower (17-52%). Figure A is a lateral radiograph of an elbow showing extensive heterotopic ossification with sharp cortical margins. This is consistent with heterotopic ossification in the mature stage. Incorrect Answers: Answer 1: Waiting for maturity has been found by some studies to decrease the chance of recurrence when compared to early excision. Answer 3: Bone scans may still be positive after the lesion has reached maturity. Answer 4: Duration from initial injury does not always correlate with level of maturity. Answer 5: Alkaline phosphatase levels may aid in the diagnosis of heterotopic ossification, but are not used to assess the level of maturity of the lesion. REFERENCES: 1. Cohen MS. Elbow stiffness. In: Galatz LM, ed. Orthopaedic Knowledge Update: Shoulder and Elbow 3. Rosemont, IL: American Academy of Orthopaedic Surgeons; 2008:477-484. 2. Cipriano CA, Pill SG, Keenan MA. Heterotopic ossification following traumatic brain injury and spinal cord injury. J Am Acad Orthop Surg. 2009 Nov;17(11):689-97 PMID:19880679 (Link to Abstract) Mark Karadsheh MD, Michael Hughes MD, Patrick O'Donnell MD/PhD, Felasfa Wodajo MD,

Tumoral Calcinosis Author: Daniel Hatch

Introduction capsular soft tissues

demographics o more common in females and African-Americans o onset usually in childhood or early adolescence location o typically occurs around joints, primarily the hip and shoulder unknown o there is evidence suggesting an inborn abnormality of phosphorus metabolism

calcinosis of renal failure o radiographically similar appearance to tumoral calcinosis, but not as strongly associated with hip and shoulder distribution o renal etiology differentiates it from tumoral calcinosis o associated with hyperphosphatemia, chronic renal failure, and long term dialysis Presentation Symptoms o mass or swelling typically around joints o pain secondary to compression of normal surrounding structures Physical exam o inspection palpable mass around joint Imaging Radiographs o circular or oval, well-demarcated masses of calcium around joints o direct involvement of the bones or joints is rare CT o may demonstrate fluid-fluid levels within some of these masses MRI o may demonstrate fluid-fluid levels within some of these masses Bone scan o radionuclide bone scan may reveal intense uptake in the calcific masses

Studies Labs normal or slightly elevated renal and parathyroid function normal or slightly elevated serum calcium, phosphorus, uric acid, and alkaline phosphatase Histology o lobulated soft tissue masses with well-defined capsules and thick septae o masses are filled with calcareous material (calcium phosphate, calcium carbonate and calcium hydroxyapatite) and fluid Treatment Nonoperative o observation indications treatment of choice for non-symptomatic lesions Operative o complete surgical excision indications treatment of choice for symptomatic lesions technique complete surgical excisionis required to decrease the rate of local recurrence Qbank (2 Questions) (OBQ08.174) A 59-year-old dialysis-dependent diabetic caucasian female complains of palpable bump over her right hip. She denies pain in the hip and has not noticed any other bumps on any of her extremities. On physical exam, the bump is nontender and does not limit range of motion. A radiograph is provided in Figure A. What is the most likely diagnosis? Review Topic FIGURES: A
o o

1. 2. 3. 4.

Calcinosis of renal failure Synovial chondromatosis Synovial sarcoma Parosteal osteosarcoma

5. Myositis ossificans PREFERRED RESPONSE 1

DISCUSSION: The radiograph demonstrates calcifications throughout the abductors of the right hip consistent with calcinosis. Calcinosis of renal failure can mimic tumoral calcinosis. However, the two are separate entities. Tumoral calcinosis is a hereditary disorder primarily of African-Americans resulting in spontaneous peri-articular calcifications. It most frequently affects the hip and shoulder. Buschmann et al presents a case report of tumoral calcinosis and reviews the evaluation, diagnosis, and treatment. Illustrations A-C are examples of tumoral calcinosis, synovial chondromatosis, and parosteal osteosarcoma, respectively. Clinical history and physical exam are important to differentiate similar appearing lesions. Illustrations: A B C

REFERENCES: 1. Buschmann WR, Myers W, Sager G. Tumoral calcinosis. Case presentation and review. Orthop Rev. 1989 Apr;18(4):440-2. PMID:2654827 (Link to Abstract) 2. Bullough P. Bone Diseases resulting from disturbances in mineral homeostasis. Orthopaedic Pathology, ed 3, London, Mosby-Wolfe, 1997, pp 177-200 John Badylak MD, Michael Hughes MD,

Bone Infarct Author: Jan Szatkowski

Introduction

bone infarcts are often thought to be in the same spectrum of disease as osteonecrosis occurs within the metaphysis or diaphysis of long bone similar risk factors as those seen in osteonecrosis o trauma, sickle cell disease, connective tissue disorders, Gaucher's disease, steroid use

interruption of blood supply by intrinsic or extrinsic factors Presentation Symptoms o usually asymptomatic often found when imaging the extremities for other reasons Imaging Radiographs o medullary lesion of sheet-like central lucency surrounded by sclerosis with a serpiginous border

"smoke up the chimney"

MRI
o o

key feature is that central signal remains of normal marrow T1 weighted images peripheral low signal due to grannulation tissue and to lesser extent sclerosis periphery may enhance post gadolinium

T2 weighted images acute infarct may show ill-defined non-specific area of high signal intense inner ring of granulation tissue and a hypointense outer ring of sclerosis Bone Scan o cold in early phases o hot in late resorptive and revascularisation phase Treatment Nonoperative observation o indications usually asymptomatic and do not require treatment Qbank (1 Questions) (OBQ08.167) A 45-year-old female twists her knee suddenly while playing tennis. She denies any history of knee pain in the past. Radiographs are shown in Figure A. What is the diagnosis? Review Topic FIGURES: A

1. 2. 3. 4. 5.

Bone infarct Osteonecrosis Metastatic carcinoma Osteosarcoma Enchondroma

PREFERRED RESPONSE 1 DISCUSSION: Idiopathic bone infarcts often occur in the metaphysis of long bones such as the femur and tibia. They are often asymptomatic and found on imaging studies for other reasons. The infarcted area undergoes progressive, but incomplete resorptive replacement. The bone infarct becomes surrounded by a thick and calcified fibro-osseous wall in a healing attempt. This accounts for the blotchy medullary and linear peripheral shadows seen in radiographs of old bone infarcts resembling smoke up the chimney. Bone scans are cold in the early stages and hot as revascularisation occurs. The etiology is thought to be related to intrinsic/extrinsic vascular compromise such as atherosclerosis,

arteritis, and thrombosis. Biopsy (usually unnecessary) shows mineralization of necrotic marrow elements. Bone infarcts usually are asymptomatic, and no treatment is required. If a patient presents with pain, another etiology should be sought. Rarely, malignancy, such as a malignant fibrous histiocytoma, can occur at the site of a bone infarct REFERENCES: 1. Dorfman HD, Czerniak B: Bone Tumors. St. Louis, MO, Mosby 1998, p 1209 2. Marcove RC, Arlen M: Atlas of Bone Pathology. Philadelphia, PA, JB Lippincott, 1992, pp 190-201 Jan Szatkowski MD, Michael Hughes MD,

Focal Fibrocartilaginous Dysplasia Author: Michael Hughes

Introduction unilateral varus of the tibia

demographics o usually seen in infant or toddlers etiology and the pathogenesis of the deformity are unknown

infantile tibia vara o important to recognize this variation of infantile tibia vara as it can resolve without surgery Presentation Physical exam unilateral tibia vara knee hyperextension with lateral thrust can be seen Imaging Radiographs abrupt varus at the metaphysealdiaphyseal junction of the tibia cortical sclerosis at the medial cortex radiolucency may appear just proximal to area of cortical sclerosis corresponding to the fibrocartilaginous tissue Studies Histology

prominent layers of collagenic fibrous tissue with thick dense fibrocartilaginous tissue Treatment Nonoperative o observation indications majority spontaneously correct because of the normal proximal tibial physeal growth

Operative o deformity correction indications may be necessary if the deformity progresses or fails to resolve during a period of observation or orthotic management Qbank (1 Questions) OBQ06.116) The parents of an 18-month-old toddler are concerned about bowing of the child's left lower extremity. The child began ambulating at 13 months of age and continues to ambulate with no overt signs of pain. Clinical photograph, radiographs, bone scan, CT, and histopathology are shown in Figures A through E. Which of the following is the most likely diagnosis? Review Topic FIGURES: A B C D E

1. 2. 3. 4.

Focal fibrocartilaginous dysplasia Neurofibromatosis Toddler's fracture Non-ossifying fibroma

5. Aneurysmal bone cyst PREFERRED RESPONSE 1 DISCUSSION: Focal fibrocartilaginous dysplasia (FFCD) is a rare, benign tumor like lesion in children. The tibia is the most common site of disease and often the patient often presents with tibia vara and a conspicuous gait. The radiographic appearance of FFCD is pathognomic. It consists of a lucency in the medial cortical border of the metaphysis. MRI is only required in ambiguous cases. Bone scan shows the deformity but does not show a "hot" lesion suggesting aggressive disease. Histology shows dense bland fibrous tissue without any malignant characteristics. In most cases this benign condition undergoes spontaneous resolution. Curettage or corrective osteotomy is only indicated when the deformity is persistent or progressive. Bradish et al report on 5 patients. Three patients did well with spontaneous resolution. Of the two treated with osteotomy, one had significant complications with secondary tibia valgus and neurologic injury. Choi et al reviewed 46 cases in the literature. Roughly half of the tibial cases spontaneously resolved. Spontaneous resolution was much less common in the femur and humerus. The authors recommended corrective

osteotomy if the deformity became progressive or was persistent and compromised the alignment and/or function of the adjacent joints. REFERENCES: 1. Bradish CF, Davies SJ, Malone M: Tibia vara due to focal fibrocartilaginous dysplasia: The natural history. J Bone Joint Surg Br 1988;70:106-108. PMID:3339040 (Link to Abstract) 2. Choi IH, Kim CJ, Cho TJ, et al: Focal fibrocartilaginous dysplasia of long bones: Report of eight additional cases and literature review. J Pediatr Orthop 2000;20:421-427. PMID:10912595 (Link to Abstract)

Metastatic Cancer of Bone Author: Patrick O'Donnell

Introduction

Metastatic cancer is the most common reason for a destructive bone lesion in adults carcinomas that commonly spread to bone include breast lung thyroid renal prostate Epidemiology o incidence bone is the third most common site for metastatic disease (behind lung and liver) o demographics metastatic bone lesions are usually found in older patients (> 40 yrs) o locations common sites of metastatic lesions include axial skeleton (vertebral bodies, pelvis, ribs) thoracic spine is most common site of bony metastasis proximal limb girdle proximal femur is most common site of fracture secondary to metastatic bone lesions Pathophysiology o mechanism of bone destruction (osteolysis) osteolytic bone lesions are caused by tumor induced activation of osteoclasts occurs through the RANK, RANK ligand (RANKL), osteoprotegrin pathway PTHrP positive breast cancer cells activate osteoblastic RANKL production osteoblastic bone metastases are due to tumor-secreted endothelin 1 Prognosis
o

median survival in patients with metastatic bone disease thyroid: 48 months prostate: 40 months breast: 24 months kidney: variable depending on medical condition but may be as short as 6 months lung: 6 months Associated conditions o metastatic hypercalcemia a medical emergency symptoms include confusion muscle weakness polyuria & polydipsia nausea/vomiting dehydration treatment treat with hydration and loop diuretics Metastatic cancer is the most common reason for a destructive bone lesion in adults carcinomas that commonly spread to bone include breast lung thyroid renal prostate Epidemiology o incidence bone is the third most common site for metastatic disease (behind lung and liver) o demographics metastatic bone lesions are usually found in older patients (> 40 yrs) o locations common sites of metastatic lesions include axial skeleton (vertebral bodies, pelvis, ribs) thoracic spine is most common site of bony metastasis proximal limb girdle proximal femur is most common site of fracture secondary to metastatic bone lesions Pathophysiology o mechanism of bone destruction (osteolysis) osteolytic bone lesions are caused by tumor induced activation of osteoclasts occurs through the RANK, RANK ligand (RANKL), osteoprotegrin pathway PTHrP positive breast cancer cells activate osteoblastic RANKL production osteoblastic bone metastases are due to tumor-secreted endothelin 1 Prognosis
o

median survival in patients with metastatic bone disease thyroid: 48 months prostate: 40 months breast: 24 months kidney: variable depending on medical condition but may be as short as 6 months lung: 6 months Associated conditions o metastatic hypercalcemia a medical emergency symptoms include confusion muscle weakness polyuria & polydipsia nausea/vomiting dehydration treatment treat with hydration and loop diuretics

Principles of metastasis

Mechanism of metastasis o tumor cell intravasation E cadherin cell adhesion molecule (on tumor cells) modulates release from primary tumor focus into bloodstream o avoidance of immune surveillance o target tissue localization attaches to target organ endothelial layer via integrin cell adhesion molecule (expressed on tumor cells) o extravasation into the target tissue o induction of angiogenesis via vascular endothelial growth factor (VEGF) expression o genomic instability o decreased apoptosis Vascular spread o Batson's vertebral plexus valveless venous plexus of the spine that provides a route of metastasis from organs to axial structure including vertebral bodies, pelvis, skull, and proximal limb girdles o arterial tree metastasis mechanism by which lung and renal cancer spread to the distal extremities

Symptoms

Symptoms o pain

may be mechanical pain due to bone destruction or tumorigenic pain which often occurs at night

pathologic fracture occurs at presentation in 8-30% of patients with metastatic disease o metastatic hypercalcemia Physical exam o neurologic deficits caused by compression of the spinal cord with metastatic disease to the spine

Evaluation Workup for older patient with single bone lesion and unknown primary includes

imaging o plain radiographs in two planes of affected limb o CT of chest / abdomen / pelvis o technetium bone scan to detect extent of disease myeloma and thyroid carcinoma are often cold on bone scan - evaluate with a skeletal survery labs o CBC with differential o ESR o basic metabolic panel o LFTs, Ca, Phos, alkaline phosphatase o serum and urine immunoelectrophoresis (SPEP, UPEP) biopsy o in patients where a primary carcinoma is not identified, obtaining a biopsy is necessary to rule out a primary bone lesion should not treat a bone lesion without tissue diagnosis of the lesion o metastatic adenocarcinoma not identified by CT of the chest, abdomen, and pelvis is most likely from a small lung primary tumor

Imaging

Radiographic o recommended views AP and lateral of involved area o findings purly lytic or mixed lytic/blastic lesions lung, thyroid, and renal are primarily lytic 60% of breast CA is blastic 90% of prostate CA is blastic cortical metastasis are common in lung cancer lesions distal to elbow and knee are usually from lung or renal primary CT scan o helpful to identify metastatic lesions to the spine MRI o useful to show neurologic compromise of the spine

Studies Histology

characteristic findings o epithelial cells in clumps or glands in a fibrous stroma immunohistochemical stains positive o Keratin o CK7 (breast and lung cancer) o TTF1 (lung cancer)

Treatment - Metastatic Extraspinal Bone Lesion

Goals goal of treatment in metastatic disease is pain control and maintainence of patient independence Nonoperative o bisphosphonate therapy indications symptomatic care by preventing osteoclatic bone destruction technique IV pamidronate most commonly used Operative o stabilization of complete fracture, postoperative radiation indications most complete fractures are treated if operative stabilization leads to improved quality of life postoperative radiation all patients require postop radiation unless death is imminent or area has previously been irradiated begin radiation therapy after surgery area of irradiation should include the entire fixation device (e.g. entire femur after intramedullary nailing of femoral lesion) o prophylactic stabilization of impending fracture, postoperative radiation indications impending fx that meets criteria criteria for impending fractures o preoperative embolization indications is indicated inpatients with renal cell carcinoma or thyroid carcinoma prior to operative intervention because these cancers are very vascular.
o

Treatment - Metastatic Spine Lesion

Nonoperative o palliative care indications life expectancy of < 6 months Takuhashi scoring system can be used to determine life expectancy Operative o neurologic decompression, spinal stabilization, and postoperative radiation indications metastatic lesions to spine with neurologic deficits in patients with life expectancy of > 6 months. technique

preoperative embolization indicated in metastatic renal CA to spine

Techniques

Prophylactic IM nailing of proximal femur lesions o indications impending and complete peritrochanteric fractures that do not involve the femoral head o technique statically locked cephalomedullary IM nail for peritrochanteric fractures Hemiarthroplasty vs.Total Hip Arthroplasty o indications both impending and complete pathologic fractures of the femoral head and neck can be management with replacement arthroplasty

Differentials & Groups

Location

Xray

Xray

CT

B. Scan

MRI

MRI

Histo (1)

Case A

Prox femur

Case B

pelvis

Case C

Hand (thyroid CA)

Case D

Hand (lung CA)

Case E

Femur (lung CA)

Case F

pelvis

Case G

Renal CA (angio)

Qbank (27 Questions) (OBQ12.124) A 68-year-old male presents to the emergency room with neck pain and progressive weakness to the point that he is unable to walk. Prior to this event he was in good health and active. On physical exam he is an ASIA C. Radiographs, computed tomography, and an MRI are show in Figure A,B, and C respectively. A CT of the chest, abdomen, and pelvis shows a single resectable lesion in the rectum consistent with a primary malignancy. Sagittal images of the spine show a single metastatic lesion in the thoracic spine, but no signs of thoracic canal compromise. He has no other metastatic bone lesions. What is the best treatment for this patient? Review Topic FIGURES: A B C

1. 2. 3. 4. 5.

Surgical decompression and stabilization followed by radiation Radiation followed by surgical decompression and fusion Radiation alone Chemotherapy alone Palliative measures

PREFERRED RESPONSE 1 DISCUSSION: The clinical presentation is consistent with metatatic cancer to the spine in a patient with a life expectancy of greater than six months. Therefore surgical decompression and stabilization followed by radiation is the most appropriate treatment. There is good evidence to support surgical decompression followed by radiation for patients with metastatic cancer to the spine leading to a neurologic deficit if their life expectancy is greater than six months. Using the Tokuhashi scoring system, this patient has a score equal to 11, and therefore a life expectancy of > 6 months. A score of 11 was calculated in the following way: 11 = Good health (2 points) + No Extra-spinal bone lesions (2 points) + 2 Spinal Lesions (1 point) + Removable visceral lesion (1 points) + Primary Rectal Lesion (4 points) + Incomplete Palsy (1 point). Patchell et al. published a prospective, randomized study comparing patients who received surgery followed by radiation to patients who only received radiation. The results were so dramatically in favor of surgery and radiation that the study was stopped early. Importantly, patients with extremely radiosensitive tumors such as multiple myeloma were excluded from the study. Ghogawala et al. retrospectively reported on 123 patients with spinal metastases. They also

found significantly improved neurologic results and life expectancy for patients who had surgery. Additionally, they found a three-fold higher risk of serious wound complications for patients who underwent radiation prior to surgery. Kim et al., in a more recent systematic review of the literature, verified the results of the previous studies. They identified 33 well-designed studies. It was noted that paraplegic patients (from spinal metastasis) who underwent surgery had greater pain relief and 4-fold greater return to ambulation. Tokuhashi et al. published a scoring system to help develop a treatment algorithm for patients with metastatic spinal lesions. They used a patient's general condition, the number of extraspinal bone metastases, the number of metastases in the vertebral body, the metastases to other major internal organs, the primary site of the tumor, as well as the degree of neurologic compromise to determine the life expectancy. They recommended against surgical intervention for patients with less than six months to live. Illustration A is a table showing the Tokuhashi scoring system. Incorrect Answers: Answer 2: Radiation prior to surgery leads to a three-fold increase in wound complications. Answer 3: In patients who do not have highly radiosensitive tumors (i.e. multiple myeloma) the neurologic recovery and life expectancy are improved with surgery. Answer 4: While chemotherapy is a standard treatment for metastatic disease, it has a slow onset and is an inappropriate choice for a patient with acute neurologic deterioration. Answer 5: Palliative care is the appropriate choice for patients with less than 6 months to live. If this patient was in poor health with multiple unresectable metastatic lesions, along with multiple spinal and metastatic bone lesions, this would be the appropriate choice. Illustrations: A REFERENCES: 1. Patchell RA, Tibbs PA, Regine WF, Payne R, Saris S, Kryscio RJ, Mohiuddin M, Young B. Direct decompressive surgical resection in the treatment of spinal cord compression caused by metastatic cancer: a randomised trial.Lancet. Aug 20-26 2005;366(9486):643-648. PubMed PMID: 16112300. PMID:16112300 (Link to Abstract) 2. Ghogawala Z, Mansfield FL, Borges LF. Spinal radiation before surgical decompression adversely affects outcomes of surgery for symptomatic metastatic spinal cord compression. Spine (Phila Pa 1976). 2001 Apr 1;26(7):818-24. PubMed PMID: 11295906. PMID:11295906 (Link to Abstract) 3. Kim JM, Losina E, Bono CM, Schoenfeld AJ, Collins JE, Katz JN, Harris MB. Clinical outcome of metastatic spinal cord compression treated with surgical excision radiation versus radiation therapy alone: a systematic review of literature. Spine (Phila Pa 1976). 2012 Jan 1;37(1):78-84. doi: 10.1097/BRS.0b013e318223b9b6. Review. PubMed PMID: 21629164. PMID:21629164 (Link to Abstract) 4. Tokuhashi Y, Ajiro Y, Umezawa N. Outcome of treatment for spinal metastases using scoring system for preoperative evaluation of prognosis. Spine (Phila Pa 1976). 2009 Jan 1;34(1):69-73. doi: 10.1097/BRS.0b013e3181913f19. PubMed PMID: 19127163. PMID:19127163 (Link to Abstract) Question Authors:

Greg Schroeder, Derek Moore MD, AFSHIN RAZI MD, Felasfa Wodajo MD,

Giant Cell Tumor Author: Patrick O'Donnell

Introduction

A benign aggressive tumor typically found in the epiphysis of long bones Age & sex o more common in females (unlike most bone tumors which show male predominance) o ages 30-50 years Location o 50% occur around knee (distal femur or proximal tibia) o 10% in sacrum and vertebrae (sacrum is most common site in axial skeleton) while GCT can rarely occur in the spine, it usually occurs in the vertebral body o distal radius is third most common location o phalanges of the hand is also a very common location o may arise in the apophysis (like chondroblastoma) o spinal GCT typically occurs in the vertebral body Malignancy o primary malignant giant cell tumor metastatic to lung in 2-5% hand lesions have greater chance of metastasis secondary malignant giant cell tumor occurs following radiation or multiple resections of giant cell tumor

Symptoms

Symptoms o pain referable to involved joint Physical exam o palpable mass o decreased range of motion around affected joint

Imaging

Radiographs o eccentric lytic epiphyseal/metaphyseal lesion that often extends into the distal epiphysis and borders subchondral bone o "neo-cortex" is characteristic of benign aggressive lesions, and not unique to GCT Bone scan o is very hot MRI o shows clear demarcation on T1 image between fatty marrow and tumor

Histology Characteristic findings o neoplastic cell is the mononucleur stromal cell o hallmark giant cells are numerous nuclei of giant cell appears same as stromal cells o secondary aneurysmal bone cyst degeneration is not uncommon

Treatment Nonoperative o radiation alone indications only indicated for inoperable or multiply recurrent lesions outcomes

leads to 15% malignant transformation o medical management indications medical therapy can be used to augment or replace surgical management depending on the specific clinical scenario medications bisphosphonates osteclast inhibitors which may decrease the size of the defect in giant cell tumors denosumab monoclonal antibody against RANK-ligand recent clinical trials suggest denosumab can decrease the size of the bone defect in giant cell tumor Operative o extensive curettage and reconstruction (with adjuvant treatment) indications lesions amenable to currettage hand lesion treatment is controversial if no cortical breakthrough treat with curettage and cementing if significant cortical breakthrough consider intercalary resection (with free fibular graft) vs. amputation technique challenge of treatment is to remove lesion while preserving joint and providing support to subchondral joint extensive exterioration (removal of a large cortical window over the lesion) is required can fill lesion with bone cement or autograft/allograft bone outcomes 10-30% recurrence with curettage alone verses 3% with adjuvant treatment (phenol, hydrogen peroxide, argon beam, etc) o amputation indications hand lesions with cortical breakthrough who are not amendable to intercalary resection

Location Case A Kneerecurrence

Xray

Xray

CT

B. Scan

MRI

MRI

Histo (1)

Case B

Knee

Case C

Distal radius

Case D

Hand

Case B

Knee

Case B

Ankle

Case A

Humerus

Qbank (9 Questions) (OBQ10.204) A 29-year-old female complains of increasing severity back pain for the past 4 months. Radiograph, CT scan, T1 and T2 MRI, and biopsy specimen are shown in Figures A through E. What is the most likely diagnosis? Review Topic FIGURES: A B C D E 1. 2. 3. 4. 5. Osteosarcoma Ewing's sarcoma Lymphoma Giant cell tumor Chordoma

PREFERRED RESPONSE 4 DISCUSSION: The history, radiographs, CT scan, MRI, and histology slide are consistent with a diagnosis of giant cell tumor of the sacrum. Outside the appendicular skeleton, the sacrum is a common location for giant cell tumor of bone. The radiographs and CT scan show a well defined lytic lesion. The characteristic MRI signal pattern of a lesion which isn't too bright nor too dark is seen on T2 and T1 MRI. This MRI signal is characteristic for giant cell tumor, lymphoma, and Ewing's sarcoma. The histology specimen shows multinucleated giant cells on a mononuclear stromal background. While the MRI appearance may be suggestive of either giant cell tumor, lymphoma, or Ewing's sarcoma, the histology specimen is classic for giant cell tumor. Histology slides for lymphoma and Ewing's sarcoma are shown in illustrations A and B. Note the classic Reed-Sternberg cells of lymphoma with granular cytoplasm and a eosinophilic nucleolus and the small round blue cells of Ewing's sarcoma. Illustrations: A B

REFERENCES: 1. Mirra JM. Bone Tumors. Philadelphia, PA: Lea and Febiger; 1989:941-1022. 2. McDonald DJ, Weber KL. Giant cell tumor of bone. In: Schwartz HS, ed. Orthopaedic Knowledge Update: Musculoskeletal Tumors 2. Rosemont, IL: American Academy of Orthopaedic Surgeons; 2007:133-140. Question Authors: Patrick O'Donnell MD/PhD, John Badylak MD, Jan Szatkowski MD,

Ewing's Sarcoma
Author: Patrick O'Donnell

Introduction

A distinctive small round cell sarcoma Epidemiology o demographics typically found in patients from 5-25 years of age second most common bone tumor in children uncommon in African Americans and Chinese o locations ~50% are found in the diaphysis of long bones the most common locations include pelvis, distal femur, proximal tibia, femoral diaphysis, and proximal humerus Genetics o t(11:22) translocation found in all cases leads to the formation of a fusion protein (EWS-FLI1) can be identified with PCR and useful to differentiate Ewing sarcoma from other round cell lesions Prognosis o survival 60-70% long term survival with isolated extremity disease at presentation and appropriate treatment/tumor response to chemotherapy 40% long term survival with pelvis lesions 15% long term survival if patient presents with metastatic disease o poor prognostic factors spine and pelvic tumors tumors greater than 100cm3 < 90% necrosis with chemotherapy elevated lactic dehydrogenase levels p53 mutation in addition to t(11:22) translocation

Symptoms Presentation o pain often accompanied by fever o often mimics an infection

Physical exam o swelling and local tenderness

Imaging Radiographs o large destructive lesion in the diaphysis or metaphysis with a moth-eaten appearance o lesion may be purely lytic or have variable amounts of reactive new bone formation o periosteal reaction may give "onion skin" or "sunburst" appearance Bone scan o required as part of staging workup - will show very "hot" lesion MRI o necessary to identify soft-tissue extension and marrow involvement o often shows a large soft tissue component CT chest o is required for appropriate staging to look for pulmonary metastasis

Evaluation Labs ESR is elevated WBC is elevated anemia is common lactic dehydrogenase Bone marrow biopsy o required as part of workup for Ewing's to rule out metastasis to the marrow
o o o o

Histology Gross appearance o may have liquid consistency mimicking pus Characteristic findings o sheets of monotonous small round blue cells o prominent nuclei and minimal cytoplasm o may have pseudo-rosettes (circle of cells with necrosis in center) Immunostaining

CD99 reactivity

Treatment Operative o chemotherapy and limb salvage resection indications standard of care in most patients chemotherapy preoperative chemotherapy given for 8-12 weeks followed by surgical resection and maintenance chemotherapy for 6-12 months irradiation current trend is towards surgical resection and away from irradiation due to long term morbidity associated with radiation situations where radiation may be used non-resectable tumors (eg. large spinal tumors) patients who present with widely metastatic disease

Location Case A Tibia

Xray

Xray

CT

B. Scan

MRI

MRI

Histo (1)

Case B

femur

Case C

Humerus

Case D

Pelvis

Case E

Pelvis

Case F

Qbank (9 Questions) (OBQ12.222) A 10-year-old male presents with ongoing complaints of left thigh pain after falling during a soccer game. A clinical photo is seen in Figure A. He has tenderness and general warmth over the lateral aspect of his left thigh. His ESR is 82 and his WBC is 15. A radiograph and histology slide are shown in Figures B and C. What is the most likely translocation and fusion protein associated with this condition? Review Topic FIGURES: A B C 1. 2. 3. 4. 5. t (x:18), EWS-FL1 t (2:13), PAK3-FKHR t (11: 22), EWS-FL1 t (11: 22), EWS-CHN t (9: 22), EWS-CHN

PREFERRED RESPONSE 3 DISCUSSION: Based on the presentation and clinical findings, the most likely diagnosis is Ewings sarcoma. The associated translocation and fusion protein is t (11:22), EWS-FL1. Ewings sarcoma, the second most common primary tumor of bone in children, is the result of a translocation event; the resulting protein, EWS-FL1, is seen in all cases. PCR can be used to detect the protein, which can help to discern this from other round cell tumors. Elevated LDH levels and concomitant p53 mutations are noted to be poor prognostic factors. Burchill et al. reviews the histologic, diagnostic and prognostic considerations of Ewings sarcoma. Under light microscopy the tumor is found to be composed of small round cells containing finely dispersed chromatin. They emphasize the importance of research into the fusion proteins as targets for therapeutic intervention. Figure A shows a swollen limb in a patient with Ewings sarcoma of the thigh. Figure B is an AP radiograph of a femur, where significant periosteal reaction is giving the femoral diaphysis an onion skin appearance. Figure C demonstrates the small blue cells that comprise Ewings sarcoma on a histological level. Ewings will also have CD99 immunostaining reactivity.

Incorrect Answers 1: t (x:18) is the translocation associated with synoval sarcoma. The fusion protein is SYTSSX1 2: t (2: 13), PAK3-FKHR is the translocation and associated protein for rhabdomyosarcoma 4, 5: t (9:22) and EWS-CHN are the translocation and associated fusion protein for chondromyxoid sarcoma REFERENCES: 1. Burchill SA. Ewings sarcoma: diagnostic, prognostic, and therapeutic implications of molecular abnormalities. J Clin Pathol. 2003 Feb;56(2):96-102. Review. PubMed PMID: 12560386. PMID:12560386 (Link to Abstract) 2. Hopyan S, Wunder JS, Randall RL. Molecular biology in musculoskeletal neoplasia. In: Schwartz HS, ed. Orthopaedic Knowledge Update: Musculoskeletal Tumors 2. Rosemont, IL: American Academy of Orthopaedic Surgeons Question Authors: Amiethab Aiyer, Ben Taylor MD, Patrick O'Donnell MD/PhD, Jeff Shilt MD,

Adamantinoma
Author: Patrick O'Donnell

Introduction Rare low-grade malignant tumor of unknown etiology that is almost always located in the mid-tibia Epidemiology o incidence less than 300 cases have been documented o demographics occurs in young adults (20 - 40 years of age) Associated conditions o osteofibrous dysplasia historically, it was thought that osteofibrous dysplasia (OFD) was a precursor to this adamantinoma, however current studies have cast doubt on this theory Prognosis o may metastasize to lungs (25%), therefore long-term followup is recommended o recurrence is uncommon with negative margin excision

Presentation Symptoms o pain of months to years duration Physical exam o bowing deformity or a palpable mass of tibia is common

Imaging Radiographs o multiple sharply circumscribed lucent lesions ("soap bubble" appearance) with interspersed sclerotic bone in mid tibia some lesions may destroy cortex

o o o

may see bowing of the tibia radiographic evolution of lesions is helpful in the diagnosis as lesions may continue to grow and erode thru the cortex unlike other primary bone tumors, adamantinoma typically shows no periosteal reaction

Studies Histology o characteristic fibrous and epithelial tissue in gland like pattern o contains both epithelial and mesenchymal cells nests of epithelial-like cells arranged in palisading or glandular pattern

background of fibrous stroma

Treatment Operative o wide-margin surgical resection indications standard of care in most patients techniques often requires intercallary resection with allograft or intercallary megaprosthesis reconstruction as adamantinoma is a low-grade malignancy, radiotherapy and/or chemotherapy is not typically used for local control of disease

Location Case A tibia

Xray

Xray

CT

B. Scan

MRI

MRI

Histo (1)

Case B

tibia

Case C

tibia

Case D

tibia

Qbank (3 Questions) (OBQ12.31) An 28-year-old male presents for evaluation of leg pain. He denies trauma, and is otherwise healthy. A lateral radiograph of the affected leg is shown in Figure A. A biopsy is taken, and the low and high power histology specimens are shown in Figures B and C. The pathology report states the presence of islands and cords of basaloid epithelial cells in a fibrous stroma with nuclear atypias and mitotic figures. Which of the following should be offered as definitive treatment of this lesion? Review Topic FIGURES: A B C 1. 2. 3. 4. 5. Continued observation Radiation and chemotherapy Bracing to prevent tibial deformity and pathologic fracture Immediate above the knee amputation En bloc resection with wide margins followed by appropriate reconstruction

PREFERRED RESPONSE 5 DISCUSSION: The clinical history and figures are consistent with a diagnosis of adamantinoma. This is best treated initially by en bloc resection with wide margins followed by appropriate reconstruction to prevent local recurrence or metastasis.

Differentiating between adamantinoma (AD) and osteofibrous dysplasia (OFD) can be difficult, as the two lesion share many similar characteristics. AD is a rare, low-grade malignant primary bone tumor that occurs most often in the tibia and/or fibula of adolescent persons and young adults; however, it has been reported in other long bones, as well. Histologically, AD is composed of islands of epithelial cells in a spindle-cell stroma and nuclear atypia with mitotic figures may be present as well. OFD is a rare, benign, fibroosseous lesion that typically is seen within the cortex of the tibia in children. Microscopically, OFD is characterized by a loose, often storiform fibrous background containing spicules of woven bony trabeculae that are lined by a layer of osteoblasts. Treatment of OFD in children usually consists of observation. Kashima et al. assessed expression of podoplanin, a glycoprotein found in osteocytes, in OFD and AD as well as in fibrous dysplasia and metastatic cancer. Podoplanin expression was found in OFD and AD only, and the authors concluded that expression of podoplanin in an osteolytic tumour of the tibia may be useful as a diagnostic discriminant in distinguishing OFD from fibrous dysplasia and ALB from metastatic adenocarcinoma. Most et al. completed a review article discussing the features associated with OFD and AD. They state that management of OFD varies from observation to surgical intervention, depending on the age of the patient and the extent of the lesion. Management of AD requires surgical resection with wide margins, followed by appropriate reconstruction, to minimize the risk of local recurrence or metastasis. Figure A shows a lateral radiograph of a tibia with multifocal lytic lesions and areas of intervening sclerosis, which can give a soap bubble appearance. Figures B and C show the characteristic histological findings of AD including islands and cords of basaloid epithelial cells in a fibrous stroma with nuclear atipias and mitotic figures. Illustration A shows an example of OFD for comparison. Note the classic intracortical anterior tibial lesion which is well marginated and surrounded by an area of sclerosis. Illustration B demonstrates the histology of OFD, showing a loose, storiform fibrous background containing spicules of woven bony trabeculae that are lined by a layer of osteoblasts. Incorrect Answers: Answer 1: Observation would be appropriate for a diagnosis of OFD in a child. Answer 2: Radiation and chemotherapy are not effective treatments for adamantinoma. Answer 3: Bracing would be appropriate treatment for OFD in the setting of tibial bowing or pending pathologic fracture. Answer 4: Above the knee amputation would be appropriate as a salvage operation if en bloc resection and reconstruction failed. Illustrations: A B

REFERENCES: 1. Kashima TG, Dongre A, Flanagan AM, Hogendoorn PC, Taylor R, Athanasou NA. Podoplanin expression in adamantinoma of long bones and osteofibrous dysplasia. Virchows

Arch. 2011 Jul;459(1):41-6. Epub 2011 Apr 16. PubMed PMID: 21499851 PMID:21499851 (Link to Abstract) 2. Most MJ, Sim FH, Inwards CY. Osteofibrous dysplasia and adamantinoma. J Am Acad Orthop Surg. 2010 Jun;18(6):358-66. Review. PubMed PMID: 20511441. PMID:20511441 (Link to Abstract) Question Authors: Joshua Blomberg MD, Patrick O'Donnell MD/PhD, Derek Moore MD,

Soft Tissue Tumors Introduction Soft Tissue Sarcoma Author: Patrick O'Donnell

Introduction Soft tissue sarcomas are rare o 7000 new case/year in the United States Proper evaluation is critical o unplanned excision of a soft-tissue sarcoma may negatively impact patient outcome o delay in diagnosis can adversely affect ultimate outcome Metastasis o lung is most common site of metastasis Prognosis o poor prognostic factors include high grade size > 5 cm tumor location below the deep fascia Classification Over 50 histological types of soft tissue sarcomas exist o previously tested soft tissue sarcomas include synovial sarcoma liposarcoma rhabdomyosarcoma fibrosarcoma leiomyosarcoma angiosarcoma Presentation Symptoms o enlarging painless mass Physical exam o palpable soft tissue mass differentiation of whether mass is above or below fascia has prognostic importance size greater than 5cm in cross-section is a poor prognostic factor

Imaging Radiographs o obtain plain radiographs in two planes MRI o is mandatory to evaluate soft tissue lesions in the extremities and determine treatment algorithm o diagnostic MRI MRI is typically diagnostic for the following benign lesions lipoma neurilemoma (schwanoma) intramuscular myxoma if MRI is diagnostic and the mass is benign and symptomatic, then it can be removed without a biopsy o indeterminate MRI if MRI is indeterminate or suggestive of sarcoma, then a core needle or open biopsy must be obtained before further treatment is initiated soft tissue sarcomas can look similiar to hematomas so be cautious of a "hematoma" which occurs without trauma Evaluation Histology detemined by type of sarcoma o synovial sarcoma

Liposarcoma

Rhabdomyosarcoma

Fibrosarcoma

Treatment Treatment overview o treatment must be based on a tissue diagnosis unless images are diagnostic (e.g. lipoma) Operative o radiation therapy & wide surgical resection indications standard of care in most cases radiation therapy an important adjunct to surgery decreasing local recurrence 50-60 Gy is the standard dose for soft-tissue sarcomas radiotherapy may be given pre- or post-operatively pre-operative radiotherapy is associated with a 30% risk for wound complications post-operative radiotherapy is associated with greater radiation induced morbidity and an increased risk for radiation induced sarcoma chemotherapy is controversial for soft tissue sarcomas surgical resection must confirm border free of disease with histology Complications Recurrence o following resection the most common location for recurrence of a low grade, soft tissue sarcoma is locally Qbank (10 Questions) (OBQ12.57) A 58-year-old man presents to your clinic with a 4-cm deep mass in his left thigh. It has been slowly expanding over the last 6 months. Radiographs show no evidence of bony involvement or soft tissue calcifications within the lesion. Which of the following is most appropriate at this time? Review Topic 1. 2. 3. 4. Repeat clinical examination and radiographs in 6 months Contrast-enhanced MRI scan Fine needle aspiration Core biopsy

5. Excisional biopsy PREFERRED RESPONSE 2 DISCUSSION: The clinical picture is concerning for a soft tissue sarcoma. After radiographs have been obtained, the next most appropriate step is to obtain an MRI scan to further characterize the soft tissue mass and plan a biopsy.

Soft tissue sarcomas typically present as enlarging, painless masses. Initial work-up of a suspected soft tissue sarcoma starts with radiographs to rule-out bony involvement and look for diagnostic clues such as intra-lesional calcifications. After radiographs have been obtained, a contrast-enhanced MRI scan is the next most appropriate step in the work-up. If the MRI scan is diagnostic, and the mass is benign and symptomatic, excision of the mass can be entertained without obtaining a biopsy. If the MRI scan is indeterminate, a core needle or open biopsy should be obtained before treatment is initiated. Biopsy should not be done before cross-sectional imaging is performed Demas et al. conduct a prospective evaluation of 40 patients with soft-tissue sarcomas to determine the reliability of CT and MRI scan at quantifying the amount of local disease. MRI and CT were comparable in many areas, but they found MRI scan to be superior in surgical planning secondary to better anatomical detail provided. They conclude that it is the ideal study for local evaluation of soft-tissue sarcomas. Gilbert et al. review soft-tissue sarcomas including their presentation and treatment. MRI scan should be performed before the removal of ANY deep soft-tissue mass or large (>5cm) superficial mass. When MRI of the lesion is indeterminate, biopsy becomes necessary to provide a diagnosis. Illustration A shows axial T1 slices (pre and post contrast) from a synovial sarcoma that was diagnosed from a biopsy. This is an example where an MRI isn't diagnostic. Incorrect Answers: Answer 1: Observation of a potential soft tissue sarcoma is not a reasonable option. Answer 3-5: MRI scan should be obtained to further characterize and possibly diagnose the lesion prior to biopsy. Illustrations: A

REFERENCES: 1. Demas BE, Heelan RT, Lane J, Marcove R, Hajdu S, Brennan MF. Soft-tissue sarcomas of the extremities: comparison of MR and CT in determining the extent of disease. AJR Am J Roentgenol. 1988 Mar;150(3):615-20. PMID:3257620 (Link to Abstract) 2. Gilbert NF, Cannon CP, Lin PP, Lewis VO. Soft-tissue sarcoma. J Am Acad Orthop Surg. 2009 Jan;17(1):40-7. Review. PMID:19136426 (Link to Abstract) Question Authors: Mark Karadsheh MD, Jan Szatkowski MD, Patrick O'Donnell MD/PhD, Felasfa Wodajo MD

Synovial Tissue Pigmented Villonodular Synovitis Author: Anay Patel

Introduction PVNS is an idiopathic monoarticular reactive synovial disease o characterized by exuberant proliferation of synovial villi and nodules Epidemiology o demographics most commonly in adults age 30-50 but can occur at any age prior test question patient ages have been 16, 30, 31, 37 years equal incidence in men and women o location may be localized (intra-articular or classic form) knee is the most common site of involvement (80%) other involved sites include hip, shoulder, and ankle can be diffuse (extra-articular extension) when extra-articular known as giant cell tumor of tendon sheath occurring along tendon sheaths of hands and feet Pathoanatomy and etiology o half of patients report prior history of trauma to afflicted region thought to be a reactive process Genetics o 5q33 chromosomal rearrangement o increased expression of CSF1 gene Prognosis o local recurrence is common Presentation History o 50% of patients will have a prior history of trauma to the area Symptoms o pain and swelling o mechanical pain and limited motion o recurrent atraumatic hemarthrosis is hallmark of disorder Physical exam o intra-articular form (classic PVNS) evaluate for joint effusion and erythema o extra-articular form (giant cell tumor of tendon sheath)

palpable masses seen along tendon sheath painless soft

Imaging Radiographs o may show cystic erosion with sclerotic margins on both sides of the joint

CT
o

may show cystic erosions on both sides of the joint

MRI
o

provides excellent delineation of intra-articular and extra-articular disease

low signal intensity on both T1 and T2

o o o

due to hemosiderin deposits presence of fat signal (T1) within the lesion can evaluate extra-articular extension of an intra-articular process commonly see posterior extension outside of the knee joint differential diagnosis similar presentation to inflammatory synovitis, synovial chondromatosis, and hemophilia

Studies Arthrocentesis

grossly bloody effusion Arthroscopy (gross appearance) o brownish or reddish inflamed synovium is typical of PVNS

frond like pattern of papillary projections

Biopsy synovial biopsy should be performed if there is any doubt of the diagnosis Histology o mononuclear stromal cells infiltrating the synovium o highly vascular villi with hyperplastic synovial cells
o

o o o

hemosiderin stained multinucleated giant cells pigmented foam cells (lipid-laden histiocytes) mitotic figures common

Treatment Nonoperative o obserrvation indications minimal role for nonoperative treatment if disease is symptomatic Operative o total synovectomy indications in grossly symptomatic and painful disease technique intra-articular disease techniques range from arthroscopic partial synovectomy to fully open total synovectomy dependent on extent and location of disease frequent recurrence is common mostly due to incomplete synovectomy extra-articular marginal excision is adequate for giant cell tumor of tendon sheath recurrence (which is common) is treated with repeat excision

external beam irradiation when combined with total synovectomy reduces rate of recurrence to 10-20%

Techniques Arthroscopic synovectomy o generally performed through routine arthroscopic portals for knee, ankle, and shoulder o technique perform as thorough resection of synovium as possible excellent for focal or limited PVNS o postoperative generally treat with some rest after procedure o pros minimally invasive approach quick return to function o cons unable to access the posterior portions of the joint unable to address extraarticular disease Arthroscopic synovectomy combined with open posterior synovectomy (knee) o arthroscopic portion as above to address anterior disease o approach posterior approach to the knee via transverse or S-shape incision across popliteal fossa approach between heads of gastrocnemius retract neurovascular bundle to access posterior joint capsule o technique disease is often see posterior and extra-articular to the knee complete posterior synovectomy and resection of extra-articular disease o pros allows surgeon to fully address all diseased sections allows for thorough synovectomy o cons posterior approach to the knee requires approaching neurovascular bundle Total joint arthroplasty and synovectomy o indicated in advanced disease with severe degenerative joint changes o applicable to knee, hip, shoulder Total synovectomy and arthrodesis o indicated in severe disease of the ankle Complications Recurrence o recurrence is the most frequent complication for both intra-articular and extraarticular disease 30-50% recurrence rate despite complete synovectomy rates can be reduced with addition of external beam radiation Qbank (4 Questions) (SBQ07.5) A 45-year-old male presents with a 6-month history of recurrent knee effusions and pain. There is no history of trauma. Exam shows a large joint effusion, decreased range

of motion, and a nodularity surrounding the knee. MRI and arthroscopic intra-articular picture are shown. What is the most likely diagnosis? Review Topic FIGURES: A B

1. 2. 3. 4.

Synovial sarcoma Rheumatoid nodule Septic arthritis Synovial chondromatosis

5. Pigmented villonodular synovitis PREFERRED RESPONSE 5 DISCUSSION: The history, examination, MRI, and arthroscopic intra-articular image are most consistent with a diagnosis of pigmented villonodular synovitis. PVNS is a benign condition which can predispose patients to early arthritis. It should be noted that the MRI shows nodular findings in both the anterior and posterior portions of the knee. Arthroscopic image shows the deep red fronds classic for PVNS secondary to hemosiderin deposition in the synovium. These findings are specifically reviewed in the article by Bhimani et al where they focus on the history, presentation, imaging appearance, and treatment modalities for PVNS and focus on the MRI appearance of these lesions. Treatment for symptomatic PVNS includes synovectomy. Often this can be accomplished arthroscopically in the anterior portion of the knee, but the synovial nodules in the posterior knee often require a formal posterior arthrotomy to remove. True intra-articular malignancies are quite rare, and despite the misnomer, synovial sarcoma is NOT an inter-articular process. Rather, synovial sarcoma tends to occur around, but not within, joint. While rheumatoid nodules, synovial chondromatosis, and lipoma arborescens are all frequent intra-articular lesions, PVNS is the most likely diagnosis based on the MRI and arthrotomy image. DePonti et al report their 10 year experience with arthroscopic treatment of PVNS of the knee. They found that localized PVNS responded well to lesional excision but that diffuse PVNS required an extended synovectomy to accomplish stable local control of the lesion. Chin et al report their results on 40 patients with diffuse PVNS. They divided their treatment

into surgery alone, surgery and intra-articular radiation, and surgery with external beam radiation. They found the knee scores and range of motion improved post-operatively in all groups, and there was suggestion that intra-articular adjuvant radiation improved the rates of local control. REFERENCES 1. De Ponti A, Sansone V, Malcher M. Result of arthroscopic treatment of pigmented villonodular synovitis of the knee. Arthroscopy. 2003 Jul-Aug;19(6):602-7. Review. PMID:12861198 (Link to Abstract) 2. Chin KR, Barr SJ, Winalski C, Zurakowski D, Brick GW. Treatment of advanced primary and recurrent diffuse pigmented villonodular synovitis of the knee. J Bone Joint Surg Am. 2002 Dec;84-A(12):2192-202. PMID:12473708 (Link to Abstract) 3. Bhimani MA, Wenz JF, Frassica FJ. Pigmented villonodular synovitis: keys to early diagnosis. Clin Orthop Relat Res. 2001 May;(386):197-202. PMID:11347835 (Link to Abstract) Question Authors: Patrick O'Donnell MD/PhD, Michael Hughes MD, John Badylak MD

Synovial Chondromatosis Author: Jason McKean

Introduction proliferative disease of the synovium associated with cartilage metaplasia results in multiple intra-articular loose bodies ranges from synovial tissue to firm nodules of cartilage

demographics o usually affects young adults 30-50 years of age o 2:1 male to female ratio location o knee is most common location

occasional chromosome 6 abnormalities have been found Presentation Symptoms o slow progression of symptoms o pain and swelling pain worse with activity o mechanical symptoms including stiffness o can occur in the bursa overlying an osteochondroma Physical exam o decreased range of motion o can have warmth, erythema, or tenderness Imaging Radiographs o recommended views standard AP/lateral of affected joint o findings variable depending on stage of disease may show stippled calcification MRI o initially cartilage nodules are only visible on MRI o lobular appearance o in later stage, signal drop out consistent with calcification Studies Histology

o o

discrete hyaline cartilage nodules in various stages of calcification and ossification chondrocytes mild atypia binucleate cells occasional mitoses

Treatment Nonoperative o observation indications mild symptoms not affecting range of motion Operative o open or arthroscopic synovectomy and loose body resection indications severe symptoms affecting range of motion outcomes treatment is symptomatic but may help prevent degenerative joint changes Qbank (2 Questions) (OBQ07.57) What is the preferred treatment of painful synovial chondromatosis of the hip in a young adult as seen in the radiograph in Figure A? Review Topic FIGURES: A

1. 2. 3. 4.

Conventional total hip arthroplasty Total hip resurfacing with synovectomy Arthroscopic removal of loose bodies Femoral CAM lesion osteoplasty

5. 600cGy radiation once to affected hip joint PREFERRED RESPONSE 3 DISCUSSION: Synovial chondromatosis of the hip when symptomatic is treated by removal of the loose bodies with synovectomy, chondroplasty, and labral debridement as needed. Synovial chondromatosis is a painful synovial proliferative disorder that is associated with cartilage metaplasia that results in multiple intra-articular loose bodies. It most often occurs in young adults who present with pain, stiffness, and swelling. Radiographs usually show fine, stippled, intra-articular calcifications, as we see here, characteristic of partially calcified cartilage granules. In a young adult with preserved joint space an arthroplasty is not recommended. A case series by Marchie et al of 29 patients with synovial chondromatosis treated by hip arthroscopy found benefit especially in cases with early grade cartilage changes.

Illustration A demonstrates arthroscopic evaluation and removal of loose bodies associated with synovial chondromatosis. Illustrations: A

REFERENCES: 1. Dorfman HD, Czerniak B: Bone Tumors. St Louis, MO, Mosby, 1998, pp 104178 2. Marchie A, Panuncialman I, McCarthy JC. Efficacy of hip arthroscopy in the management of synovial chondromatosis. Am J Sports Med. 2011 Jul;39 Suppl:126S-31S. PMID:21709042 (Link to Abstract) Question Authors: Charles Jobin MD, Michael Hughes MD

Synovial Sarcoma Author: Patrick O'Donnell

Introduction Malignant soft tissue sarcoma which arises near joints, but rarely within the joint o cellular origin of synovial sarcoma is unknown, but it is not the synovial cell or any cell involved in the synovium the name synovial sarcoma is a misnomer. Epidemiology o demographics most common sarcoma found in young adults (15-40 years) affects more males than females o location it is the most common malignant sarcoma of the foot Genetics o chromosomal translocation t(X;18) is observed in more than 90% of cases o translocation forms the SYT-SSX1, 2, or 4 fusion protein Metastatsis o synovial sarcoma typically shows high histologic grade o metastasis may develop in 30-60% of patients like other sarcomas, the lung is most common site of metastasis synovial sarcoma is one of the rare soft tissue sarcomas which can metastasize to lymph nodes the other sarcomas which can metastatize to lymph nodes include, epitheliod sarcoma, angiosarcoma, rhabdomyosarcoma, clear cell sarcoma can stage with lymph node biopsy while lymph node metastasis is a poor prognostic sign, it is not as bad as lung metastasis o metastasis is more common with large, deep, and high grade sarcomas Prognosis o overall prognosis is poor 5 year survival is approximately 50% 10 year survival is approximately 25% Presentation

Symptoms o typically present as a growing mass in proximity to a joint o may be painless or painful o most commonly occur in para-articular locations knee, shoulder, elbow, foot 60% are found in the lower extremity Physical exam o examen for regional lymphadenopathy Imaging Radiographs o can show soft tissue mineralization (calcification) in these tumors

may resemble heterotopic ossification can show calcification in the soft tissue mass

CT
o

MRI
o

MRI reveals a heterogenous mass that is typically dark on T1 weighted images and bright on T2 weighted images

Histology Characteristic findings o classical synovial sarcoma shows a biphasic appearance with two typical cell types spindle cells (fibrous type of cells) relatively small and uniform and found in sheets of malignant appearing cells with minimal cytoplasm and dark atypical nuclei epithelial cells gland, nest, or cyst like cells

rarely, synovial sarcoma can also present with poorly differentiated or monophasic fibrous cell histology, consisting only of sheets of spindle cells o cellular origin of synovial sarcoma is unknown, but it is not the synovial cell or any cell involved in the synovium. The name SYNOVIAL sarcoma is a misnomer Immunostaining for o synovial sarcoma stains positive for vimentin epithelial membrane antigen sporadic S-100 epithelial cells stain positive for keratin Treatment Operative o wide surgical resection with adjuvant radiotherapy indications standard of care in most patients technique radiotherapy may be delivered either pre-surgery or post-surgery chemotherapy data regarding chemotherapy in synovial sarcoma suggests that chemotherapy may improve both local control and overall survival Qbank (8 Questions) (OBQ11.98) Which of the following fusion proteins is associated with synovial sarcoma? Review Topic PREFERRED RESPONSE 2 DISCUSSION: The t(X;18) chromosomal translocation is commonly associated with synovial sarcoma. This chromosomal translocation forms a common fusion protein seen in synovial sarcoma, the SYT-SSX protein. There are several different forms of the SYT-SSX fusion protein seen in synovial sarcoma - where either the SSX1, SSX2, or SSX4 genes combine with the SYT gene product. Tornkvist et al describe the molecular analysis used in the pathological diagnosis of synovial sarcoma. Using specific PCR primers directed against the fusion protein seen in synovial sarcoma, they have increased both the sensitivity and specificity of this molecular diagnosis. The incorrect answers are associated with the following disease conditions:

BCR-ABL: the Philadelphia chromosome is seen in CML EWS-FLI1: Ewing's sarcoma FUS-CHOP: Myxoid liposarcoma COL1A1-PDGFB: Dermatofibrosarcoma protuberans REFERENCES: 1. Tornkvist M, Brodin B, Bartolazzi A, Larsson O. A novel type of SYT/SSX fusion: methodological and biological implications. Mod Pathol. 2002 Jun;15(6):679-85. PMID:12065783 (Link to Abstract) 2. Yuan J, Fuchs B, Scully S. Molecular basis of cancer. In: Einhorn TA, O'Keefe RJ, Buckwalter JA, eds. Orthopaedic Basic Science: Foundations of Clinical Practice. 3rd ed. Rosemont, IL: American Academy of Orthopaedic Surgeons; 2007:379-393. Question Authors: Patrick O'Donnell MD/PhD, John Badylak MD, Ben Taylor MD 1. 2. 3. 4. 5. BCR-ABL SYT-SSX EWS-FLI1 FUS-CHOP COL1A1-PDGFB

Neurilemoma
Author: Derek Moore

Introduction A benign encapsulated tumor composed of Schwann cells o tumor is well encapsulated on the surface of a peripheral nerve o also known as Schwannoma Age & location o peak incidence is in the 3rd to 6th decades previous test question ages: 40, 45 o affect males and females equally o often occurs on flexor surfaces of extremities and head and neck o larger lesions may occur in the pelvis Pathoanatomy o can affect motor or sensory nerves Genetics o often associated with mutations affecting NF2 gene Malignant transformation o extremely rare

Presentation Symptoms o usually asymptomatic o may have paresthesia in the distribution of the peripheral nerve Physical exam o may have positive Tinels sign in the distribution of the nerve affected may be present

Imaging MRI
o

sequences low intensity (dark) T1

high intensity (bright) on T2 diffuse enhancement with gadolinium findings may show string sign difficult to differentiate from neurofibroma

Histology Gross pathology o the lesion is well encapsulated in a nerve sheath o gray in color Histology o Antoni A structure a pattern of spindle cells arranged in intersecting bundles (spindle cell battle formation) o Antoni B areas with less cellularity with loosely arranged cells o Verocay bodies pathognomonic composed of two rows of aligned nuclei in a palisading formation Immunochemistry o strongly uniform S100 antibody staining

Treatment Nonoperative o observation indications asymptomatic lesions Operative o marginal excision indications symptoms or interfering with quality of life technique nerve function may be preserved by careful dissection, excising the lesion parallel to the nerve fascicles so the lesion may be extruded. complications small risk of sensory deficits outcomes recurrence is rare

Neuroma
Author: Derek Moore Introduction Common neuromas include

Interdigital (Morton's) Neuroma Recurrent neuroma

Interdigital (Morton's) Neuroma

Introduction

demographics o more common in females (9:1) location o most frequently between the 3rd and 4th metatarsals o 2nd most common is between 2nd and 3rd metatarsal

poorly understood o compression/tension around the transverse intermetatarsal ligament o repetitive microtrauma o excessive bursal tissue o endoneural edema o all the above can lead to neural fibrosis

Anatomy 3rd and 4th inter-metatarsal space o unique anatomy in that medial branch of LPN and lateral branch of MPN merge and share a common perineurium

Presentation Symptoms o pain 60% of patients report pain radiating into toe distally often pain elicited during push-off phase of running athletes and demipointe position in dancers shoes with narrow toe box or high heels can make symptoms worse patients often complain of feeling like there is a stone or similar under the ball of their foot o paresthesia 40% report numbness or dysesthesia in plantar aspect of web space Physical exam o plantar tenderness with palpation just distal to metatarsal heads o check sensation in affected region as it may be altered in some patients o a bursal click (Mulder's click) may be elicited by squeezing metatarsals together o metatarsalgia and MTP synovitis or instability must be ruled out (use drawer test at MTPJ)

Imaging Radiographs o recommended views three weight bearing views of foot to rule out bony deformity MRI o indications rule out other pathology not required for diagnosis Ultrasound o Many find helpful to evaluate nerve o dependent on size

also not necessary for diagnosis

Studies Pathology shows o perineural fibrosis o thickened and hyalinized walls o demyelination o degeneration of nerve fibers o endoneural edema o absence of inflammatory cells o frequent bursal tissue Differential MTP synovitis o can mimic an interdigital neuroma o important to differentiate between the two because treatment of interdigital neuroma with a steroid injection can exacerbate pathologic condition at the MTP joint

Treatment

Nonoperative o wide shoe box with firm sole and metatarsal pad indications first line of treatment o corticosteroid injection usually approached dorsal nerve is below intermetatarsal ligament avoid injection of MTPJ due to risk of iatrogenic instability Operative o neuroma resection indications when nonoperative management fails technique dorsal incision used most commonly resection of neuroma 2-3 cm proximal to deep transverse intermetatarsal ligament (incise transverse intermetatarsal ligament) bury proximal stump within intrinsic muscles o neuroma decompression alternative to resection, especially if adjacent neuromas resection of adjacent neuromas will lead to complete numbness of toe

Complication Stump neuroma o causes include inadequate retraction (traction neuritis) most common caused by tethering of plantar neural branches that prevent retraction following resection inadequate resection (not proximal enough) o resect through plantar or dorsal incision Painful plantar scar o increased risk (5%) with plantar incision

Malignant Peripheral Nerve Sheath Tumor

Author: Paul D. Kim

Introduction Overview o arises from a peripheral nerve or neurofibroma o also known as neurofibrosarcoma or malignant schwannoma Epidemiology o demographics 30 to 55 years for solitary neurofibromas 20 to 40 years for neurofibromatosis type 1 (NF-1) Genetics o most cases associated with NF-1 4% incidence in these patients Prognosis o survival for solitary lesion is 75% (5-year survival) o survival associated with NF-1 is 30% (5-year survival)

Presentation Presentation o soft-tissue mass o most arise from large nerves (sciatic, brachial plexus) o motor and sensory deficit of the affected nerve

Imaging Radiograph o usually normal or non-specific soft-tissue mass MRI o low-intensity on T1-weighted images o high intensity on T2-weighted images o serial MRI may show enlargement of previous benign nerve sheath lesion suggesting malignant transformation Bone scan o mildly positive

Studies Histology o classic characteristics are spindle cells with wavy nuclei resembling fibrosarcoma o Immunohistochemistry positive S100 stain keratin staining is negative

Treatment Operative o wide surgical resection + radiation indications standard of care in most patients in general, treated as high-grade sarcoma technique wide resection should include entire affected nerve radiation perform preoperative adjuvant radiation chemotherapy not useful

Neurofibroma
Author: Derek Moore Introduction Benign nerve sheath tumors with multiple cell types o fibroblasts (predominant cell) o nonmyelinating Schwann cells cell of origin, arises from this cell o perineural cells o differentiate from Schwannoma, which involves Schwann cell alone Molecular biology o arise in nonmyelinating Schwann cells with biallelic inactivation of NF1 tumor-suppressor gene o loss of expression of protein neurofibromin neurofibromin negatively regulates RAS-mediated pathway loss of neurofibromin leads to increased Ras activity affects Ras-dependent MAPK activity which is essential for osteoclast function and survival o rapid hyperplasia of nonmyelinating Schwann cells into neurofibromas after NF1 inactivation recruits perineural cells, fibroblasts, mast cells, endothelial cells

Presentation Symptoms o asymptomatic o stinging, itching, pain, disfiguration Physical exam o reduced sensation o cutaneous lesions can "button hole" through skin defect using finger pressure o signs of neurofibromatosis (2 of 7) (NIH criteria)

2 or more neurofibromas, or 1 plexiform neurofibroma axillary or groin freckling (Crowe's sign) 6 or more coast of California cafe-au-lait spots 5mm diameter in prepubertal >15mm diameter in postpubertal sphenoid wing dysplasia or thinning of long bone cortex (anterolateral tibial bowing) 2 or more Lisch nodules (iris hamartomas) on slit lamp optic glioma 1st degree relative with NF1 associated with NF1 dystrophic kyphoscoliosis rib penciling intraspinal neurofibromas and dumbbell lesions dural ectasia meningiomas

Histology Characteristics o cells

o

predominantly fibroblasts mixed Schwann cells, mast cells, lymphocytes elongated, wavy nuclei

stroma rich wire-like collagen fiber network may be myxoid distorted structures resembling Pacini or Meissner corpuscles variable S100 staining

o o

Malignancies MPNST (malignant peripheral nerve sheath tumor or neurofibrosarcoma) o 5% of patients with NF, 10-25% lifetime risk o symtoms include painful, enlarging soft tissue mass o usually from plexiform neurofibroma 10% of plexiform neurofibromas transform into MPNST o associated with loss of expression of CDKN2A or TP53 genes in nonmyelinating Schwann cells (that also have biallelic inactivation of NF1) o poor prognosis widespread metastasis high rate of local recurrence Wilms tumor melanoma leukemia rhabdomyosarcoma pheochromocytoma

Imaging MRI with and without contrast

Treatment Non operative o observe if asymptomatic Operative o surgical excision if symptomatic may require nerve grafting

Neuroblastoma
Author: Patrick O'Donnell

Introduction Neuroblastoma is a malignant tumor which develops from sympathetic neural tissue o it is the most common solid tumor of childhood o most cases of neuroblastoma arise in the adrenal gland or near the spinal cord Epidemiology o occurs in approximately 1 out of 100,000 children o slight male predominance o the majority of cases occur in children younger than 2 years of age Metastasis o metastasis to the bone are common and a poor prognostic sign Prognosis o the majority of children are cured o metastatic disease is a poor prognostic factor o in very young children, spontaneous regression of the tumor without treatment is known to occur

Presentation

Symptoms o fever, malaise, weight loss, diarrhea o if the adrenal glands are affected, the child may present with significant tachycardia o abdominal mass Exam o may reveal abdominal mass or hepatosplenomegaly Biopsy o needle or open incisional biopsy is required to obtain lesional tissue and make the histological definitive diagnosis

Imaging

Radiographs o may show bone lesions in cases of metastatic disease o bone lesions are often permeative and lytic in nature o may occur anywhere in the skeleton CT o chest/abd/pelvis is the most common initial imaging sequence for evaluation of the extent of disease o helpful in determining the extent of visceral metastasis MRI o MRI scan of the chest/abdomen may be useful to delineate anatomic structures Bone scan o helpful in determining the extent of metastatic bone disease

Histology Small round blue cells forming rosette patterns o other small round blue cell tumors of childhood include rhabdomyosarcoma non-Hodgkin's lymphoma Ewing's sarcoma/PNET blastemic component of Wilms tumor

Treatment Nonoperative o observation indications very young infants with low risk tumors a significant portion of neuroblastomas can spontaneously regress o chemotherapy and stem cell transplant alone indications children with high grade or metastatic neuroblastomas in a location not amenable to surgical resection technique treat with chemotherapeutics like platinum (cisplatin) or

alkylating agents (ifosfamide) followed by stem cell transplant

Operative o surgical excision indications low grade tumors which can be easily excised with a wide surgical margin while not damaging critical neurovascular structures o chemotherapy, stem cell transplant, and surgical excision indications high grade tumors which arise in close proximity to critical neurovascular structures and therefore cannot be easily excised with a wide surgical margin

Qbank (1 Questions)
(OBQ11.15) What is the most common malignant solid tumor of childhood? 1. 2. 3. 4. 5. Leukemia Lymphoma Neuroblastoma Ewing's Sarcoma Eosinophilic granuloma Review Topic

PREFERRED RESPONSE 3 DISCUSSION: The most common malignant SOLID tumor of childhood is neuroblastoma, developing from neoplastic transformation of neural-crest derived cells. While leukemia and lymphoma are common pediatric cancers, they are not "solid" tumors. Eosinophilic granuloma is not a malignant tumor but rather described as a tumor like condition secondary to an increase in histiocytes. While Ewing's sarcoma is a common solid neoplasm, it is not as common as neuroblastoma. Dormans and Moroz review the diagnosis, management, and outcomes of spinal tumors and infections in children. While neuroblastoma is derived from neural crest cells, it most frequently originates in one of the adrenal glands, neck, chest, abdomen, or pelvis. Illustration A shows a large mass growing in the area of the right kidney which was biopsy proven to be neuroblastoma. Note how large the pediatric liver is in relation to the rest of the abdominal cavity. Illustration B is a histology slide of a neuroblastoma with its characteristic small round blue cells (like Ewing's sarcoma) with rosette formation.

Illustrations: A

REFERENCES: 1. Khanna G, El-Khoury GY, Menda Y. Imaging in pediatric orthopaedics. In: Morrissy RT, Weinstein SL, eds. Lovell and Winter's Pediatric Orthopaedics. 6th ed. Philadelphia, PA: Lippincott Williams & Wilkins; 2006:67-96. 2. Dormans JP, Moroz L. Infection and tumors of the spine in children. J Bone Joint Surg Am. 2007 Feb;89 Suppl 1:79-97. Review. PMID:17272426 (Link to Abstract) Question Authors: Patrick O'Donnell MD/PhD, Jan Szatkowski MD, Dave Marcu MD,