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Question 421

Topic: Bone Tumors

A 13-year-old girl is diagnosed with high-grade intramedullary osteosarcoma of the distal femur. Which of the following is considered the most significant adverse prognostic factor at the time of initial diagnosis?

. Presence of a Codman triangle on plain radiographs
. Elevated serum alkaline phosphatase levels
. Macroscopic skip metastases within the same bone
. Location in the distal femur rather than the proximal tibia
. Age younger than 15 years

Correct Answer & Explanation

. Macroscopic skip metastases within the same bone


Explanation

While an elevated alkaline phosphatase is a poor prognostic factor, the presence of macroscopic skip metastases within the same bone indicates advanced disease and is associated with a significantly worse prognosis and higher risk of systemic spread.

Question 422

Topic: Bone Tumors

A 16-year-old male presents with localized cervical spine pain. Radiographs reveal a 3.5 cm expansile, radiolucent lesion in the posterior elements of C4.

Which of the following characteristics most reliably differentiates this lesion from an osteoid osteoma?

. Presence of reactive sclerosis
. Size greater than 2 cm
. Location in the posterior elements
. Night pain entirely relieved by NSAIDs
. Histological presence of woven bone

Correct Answer & Explanation

. Size greater than 2 cm


Explanation

Osteoblastoma and osteoid osteoma are histologically identical, primarily consisting of woven bone trabeculae and fibrovascular stroma. The main clinical and diagnostic differentiating factor is size, with osteoblastomas defined as being larger than 2 cm in diameter.

Question 423

Topic: Bone Tumors

A 14-year-old boy presents with a painful, enlarging mass on his right thigh 3 weeks after sustaining a minor femur fracture. Radiographs demonstrate exuberant bone formation that mimics osteosarcoma. Physical examination also reveals limited forearm pronation and supination. What is the most likely genetic mutation responsible for his underlying condition?

. COL1A1
. COL1A2
. IFITM5
. SMN1
. FBN1

Correct Answer & Explanation

. IFITM5


Explanation

Correct Answer: CThis patient's clinical presentation is classic for Osteogenesis Imperfecta (OI) Type V. This distinct form of OI is characterized by hyperplastic callus formation following fractures (which can be large, painful, and easily mistaken for osteosarcoma) and calcification of the interosseous membrane of the forearm, leading to restricted rotation and potential radial head dislocation. Unlike the majority of OI types (I-IV) which are caused by mutations in the type I collagen genes (COL1A1 or COL1A2), OI Type V is associated with mutations in the IFITM5 gene. SMN1 mutations cause Spinal Muscular Atrophy, and FBN1 mutations cause Marfan syndrome.

Question 424

Topic: Bone Tumors

A 14-year-old girl undergoes curettage of a 3.5 cm lytic bone lesion in the distal femur. The histology is shown.

Microscopy reveals loose fibrovascular connective tissue intermixed with irregular osteoid without atypical mitoses. Her pain was poorly relieved by NSAIDs. What is the diagnosis?

. Osteoid osteoma
. Osteoblastoma
. Osteosarcoma
. Chondromyxoid fibroma
. Fibrous dysplasia

Correct Answer & Explanation

. Osteoblastoma


Explanation

The size greater than 2 cm, incomplete response to NSAIDs, and classic histology of loose fibrovascular stroma with irregular osteoid distinguish osteoblastoma from osteoid osteoma. Atypical mitoses and permeative growth into normal bone are absent, differentiating it from osteosarcoma.

Question 425

Topic: Bone Tumors

A 16-year-old girl undergoes intralesional curettage of an expansile 3.5 cm lytic lesion located in the posterior elements of C4. A photomicrograph of the specimen is shown.

What is the most likely diagnosis?

. Osteoid osteoma
. Osteoblastoma
. Aneurysmal bone cyst
. Osteosarcoma
. Chondroblastoma

Correct Answer & Explanation

. Osteoblastoma


Explanation

The histology demonstrates loose fibrovascular connective tissue intermixed with irregular osteoid, typical of osteoblastoma. The lesion size (3.5 cm) rules out osteoid osteoma, which has identical histology but is <2 cm.

Question 426

Topic: Bone Tumors

A 15-year-old boy presents with a rapidly expanding, destructive metaphyseal lesion of the distal femur. MRI reveals large fluid-fluid levels. Histology shows highly pleomorphic, atypical spindle cells producing fine, lace-like osteoid within the septa separating blood-filled spaces. What is the most likely diagnosis?

. Aneurysmal bone cyst
. Unicameral bone cyst
. Telangiectatic osteosarcoma
. Giant cell tumor
. Osteoblastoma

Correct Answer & Explanation

. Telangiectatic osteosarcoma


Explanation

While aneurysmal bone cysts (ABCs) feature fluid-fluid levels and blood-filled spaces, the presence of atypical, highly pleomorphic spindle cells and malignant osteoid production within the septa is diagnostic of telangiectatic osteosarcoma. This distinction is critical as treatment requires neoadjuvant chemotherapy and wide resection.

Question 427

Topic: Bone Tumors

An 8-year-old boy sustains a minor twisting injury to his arm and complains of shoulder pain. Radiographs show a centrally located, completely radiolucent lesion in the proximal humeral metaphysis extending to the physis. A small fragment of bone is seen resting at the dependent portion of the cyst. What is the most likely diagnosis?

. Aneurysmal bone cyst
. Unicameral bone cyst
. Non-ossifying fibroma
. Fibrous dysplasia
. Enchondroma

Correct Answer & Explanation

. Unicameral bone cyst


Explanation

The description is classic for a unicameral bone cyst (simple bone cyst). The "fallen leaf" or "fallen fragment" sign indicates a pathologic fracture through a fluid-filled cystic lesion, which is highly suggestive of a UBC.

Question 428

Topic: Bone Tumors

A 15-year-old male presents with chronic back pain, which is worse at night and incompletely relieved by NSAIDs. Radiographs reveal an expansile, lytic lesion in the posterior elements of L3.

Based on the clinical presentation and typical radiographic findings shown, what is the most likely diagnosis?

. Osteoid osteoma
. Osteoblastoma
. Aneurysmal bone cyst
. Osteosarcoma
. Ewing sarcoma

Correct Answer & Explanation

. Osteoblastoma


Explanation

Osteoblastoma typically presents as an expansile lytic lesion >2 cm in the posterior elements of the spine. Unlike osteoid osteoma, the pain is generally dull, aching, and less likely to be completely relieved by NSAIDs.

Question 429

Topic: Bone Tumors

A 12-year-old boy presents with pain and swelling in his mid-thigh. Radiographs show a permeative diaphyseal lesion with an "onion skin" periosteal reaction. Genetic testing reveals a t(11;22) chromosomal translocation. What fusion protein is associated with this specific translocation?

. SYT-SSX1
. EWS-FLI1
. TLS-CHOP
. PAX3-FKHR
. BCR-ABL

Correct Answer & Explanation

. EWS-FLI1


Explanation

Ewing sarcoma is classically associated with the t(11;22) chromosomal translocation. This specific translocation results in the production of the aberrant EWS-FLI1 fusion protein.

Question 430

Topic: Bone Tumors

A 5-year-old African American child with homozygous sickle cell disease presents with high fever and severe left arm pain. Radiographs show periosteal elevation of the radial diaphysis. While Staphylococcus aureus remains common, which of the following organisms is disproportionately frequent in this specific patient population?

. Pseudomonas aeruginosa
. Neisseria gonorrhoeae
. Salmonella species
. Haemophilus influenzae
. Kingella kingae

Correct Answer & Explanation

. Salmonella species


Explanation

Children with sickle cell disease are particularly susceptible to Salmonella osteomyelitis due to functional asplenia and localized bone infarcts serving as a nidus. However, S. aureus is still an overall common cause in these patients.

Question 431

Topic: Bone Tumors

An 11-year-old boy presents with night-time right thigh pain that dramatically improves within 30 minutes of taking ibuprofen. Radiographs demonstrate a dense sclerotic lesion in the proximal femur with a 1-cm central radiolucent nidus. What is the most common definitive treatment currently utilized for this condition?

. Wide surgical excision
. Intralesional curettage and bone grafting
. Radiofrequency ablation (RFA)
. External beam radiation
. Systemic chemotherapy

Correct Answer & Explanation

. Radiofrequency ablation (RFA)


Explanation

The clinical presentation is classic for an osteoid osteoma. Percutaneous radiofrequency ablation (RFA) under CT guidance is the standard of care for definitive treatment, offering high success rates with minimal morbidity compared to open surgery.

Question 432

Topic: Bone Tumors

A 6-year-old girl presents with a limp, precocious puberty, and large, irregular cafe-au-lait spots on her torso. Radiographs show ground-glass appearing expansile lesions in her proximal femur resulting in a "shepherd's crook" deformity. What is the underlying genetic mutation?

. EXT1
. GNAS1
. NF1
. COL1A1
. FGFR3

Correct Answer & Explanation

. GNAS1


Explanation

McCune-Albright syndrome consists of polyostotic fibrous dysplasia, endocrinopathies (like precocious puberty), and cafe-au-lait spots with "coast of Maine" irregular borders. It is caused by a somatic activating mutation in the GNAS1 gene.

Question 433

Topic: Bone Tumors

An 8-year-old boy presents to the emergency department after a minor fall onto his arm. Radiographs demonstrate a pathologic fracture through a centrally located, purely radiolucent lesion in the proximal humeral metaphysis. A radiopaque fragment is noted resting at the dependent portion of the cyst (the "fallen leaf" sign). What is the most appropriate initial management for this presentation?

. Immediate intralesional curettage and bone grafting
. Wide en bloc resection and strut allografting
. Closed reduction and sling immobilization
. Neoadjuvant chemotherapy followed by wide excision
. Percutaneous injection of bone marrow aspirate

Correct Answer & Explanation

. Closed reduction and sling immobilization


Explanation

This presentation is pathognomonic for a fractured unicameral bone cyst (UBC). The initial management is nonoperative with closed reduction and immobilization to allow the fracture to heal; many UBCs will spontaneously consolidate during the fracture healing process.

Question 434

Topic: Bone Tumors

A 68-year-old man complains of severe lower back pain and fatigue. Radiographs show multiple 'punched-out' lytic lesions in his skull and pelvis. Which of the following tests is the most appropriate next step to confirm the suspected diagnosis?

. Serum prostate-specific antigen (PSA)
. Serum and urine protein electrophoresis (SPEP/UPEP)
. Bone scintigraphy (Tc-99m bone scan)
. Alkaline phosphatase level
. Flow cytometry of peripheral blood

Correct Answer & Explanation

. Serum and urine protein electrophoresis (SPEP/UPEP)


Explanation

Multiple myeloma is the most common primary malignancy of bone in adults, characterized by punched-out lytic lesions without reactive sclerosis. The best initial diagnostic tests are SPEP and UPEP to detect a monoclonal paraprotein spike.

Question 435

Topic: Bone Tumors

A 19-year-old male reports right thigh pain that is worse at night and dramatically relieved by ibuprofen. Imaging shows a 0.8 cm radiolucent nidus surrounded by dense sclerotic bone in the femoral diaphysis. What is the treatment of choice if he fails medical management?

. Wide en bloc resection
. Percutaneous radiofrequency ablation (RFA)
. Intralesional curettage and bone grafting
. Neoadjuvant radiation therapy
. Amputation

Correct Answer & Explanation

. Percutaneous radiofrequency ablation (RFA)


Explanation

The clinical presentation and imaging are classic for an osteoid osteoma. If symptoms persist despite NSAIDs, minimally invasive percutaneous radiofrequency ablation (RFA) is the treatment of choice, offering high success rates with minimal morbidity.

Question 436

Topic: Bone Tumors

An 18-year-old male complains of deep, aching pain in his proximal femur that is worse at night and dramatically relieved by ibuprofen. Imaging shows a 1 cm radiolucent nidus surrounded by dense reactive sclerosis. The pain is primarily mediated by high local concentrations of which of the following?

. Interleukin-1 (IL-1)
. Tumor necrosis factor alpha (TNF-alpha)
. Prostaglandin E2 (PGE2)
. Fibroblast growth factor 23 (FGF-23)
. Transforming growth factor beta (TGF-beta)

Correct Answer & Explanation

. Prostaglandin E2 (PGE2)


Explanation

Osteoid osteomas produce extremely high levels of Prostaglandin E2 (PGE2) and cyclooxygenase (COX-2) within the nidus. This accounts for the intense, night-time pain that is characteristically relieved by NSAIDs.

Question 437

Topic: Bone Tumors

A 16-year-old boy presents with progressive right thigh pain that is noticeably worse at night and dramatically relieved by taking ibuprofen. Radiographs demonstrate a diaphyseal cortical thickening with a central radiolucent nidus measuring 8 mm. Which of the following is the most likely diagnosis?

. Brodie's abscess
. Osteoblastoma
. Chondroblastoma
. Osteoid osteoma
. Ewing sarcoma

Correct Answer & Explanation

. Osteoid osteoma


Explanation

Osteoid osteoma classically presents with nocturnal pain that is exquisitely sensitive to NSAIDs due to high local prostaglandin production. Imaging typically shows a small (<1.5 cm) radiolucent nidus surrounded by dense reactive sclerosis.

Question 438

Topic: Bone Tumors

A 9-year-old boy sustains a minor fall and presents with arm pain. Radiographs reveal a central, purely radiolucent metaphyseal lesion in the proximal humerus with a cortical fragment resting at the bottom of the cyst. What is the most likely diagnosis?

. Aneurysmal bone cyst
. Non-ossifying fibroma
. Osteosarcoma
. Unicameral bone cyst
. Chondroblastoma

Correct Answer & Explanation

. Unicameral bone cyst


Explanation

A Unicameral Bone Cyst (UBC) is a benign, fluid-filled, central metaphyseal lesion typically found in the proximal humerus or femur of children. The 'fallen leaf' or 'fallen fragment' sign is pathognomonic and indicates a pathologic fracture through the cyst.

Question 439

Topic: Bone Tumors

A 12-year-old girl presents with knee pain. MRI of the distal femur demonstrates an eccentric, expansile metaphyseal lesion containing multiple cystic spaces with distinct fluid-fluid levels. Histology shows blood-filled spaces separated by cellular septa. What is the most likely diagnosis?

. Unicameral bone cyst
. Giant cell tumor
. Aneurysmal bone cyst
. Osteoblastoma
. Chondromyxoid fibroma

Correct Answer & Explanation

. Aneurysmal bone cyst


Explanation

Aneurysmal bone cysts (ABCs) are benign, expansile, eccentric metaphyseal lesions. MRI classically demonstrates fluid-fluid levels due to the settling of blood components within the cystic spaces.

Question 440

Topic: Bone Tumors

A 60-year-old man presents with deep thigh pain. Radiographs reveal a large diaphyseal lesion in the femur with endosteal scalloping greater than two-thirds of the cortical thickness and \"popcorn\" calcifications. What is the mainstay of treatment for this lesion?

. Neoadjuvant chemotherapy followed by wide resection
. Intralesional curettage with phenol adjuvant
. Wide surgical resection alone
. Radiation therapy followed by wide resection
. Radiofrequency ablation

Correct Answer & Explanation

. Wide surgical resection alone


Explanation

The patient has a conventional chondrosarcoma, indicated by age, endosteal scalloping, and chondroid matrix calcifications. Conventional chondrosarcomas are highly resistant to both chemotherapy and radiation, making wide surgical resection the primary treatment.