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Question 961

Topic: Bone Tumors

A 68-year-old man presents with severe lower back pain, fatigue, and recent onset of renal impairment. Radiographs demonstrate multiple sharply marginated "punched-out" lytic lesions in the skull and spine.

Which of the following is most commonly detected in the urine of patients with this condition?

. Bence Jones proteins
. Alkaline phosphatase
. Calcium pyrophosphate crystals
. Homogentisic acid
. Procollagen type I N-terminal propeptide

Correct Answer & Explanation

. Bence Jones proteins


Explanation

Multiple myeloma is characterized by the neoplastic proliferation of plasma cells, which frequently secrete monoclonal immunoglobulin light chains. These free light chains are filtered by the kidneys and can be detected in the urine as Bence Jones proteins.

Question 962

Topic: Bone Tumors

A 25-year-old woman presents with a Shepherd's crook deformity of the proximal femur. Radiographs display a large intramedullary lesion with a "ground-glass" appearance. She is diagnosed with fibrous dysplasia, which is caused by a somatic activating mutation in the GNAS gene. What is the direct intracellular consequence of this mutation?

. Decreased intracellular cAMP levels
. Increased intracellular cAMP levels
. Decreased intracellular cGMP levels
. Abnormal tyrosine kinase receptor activation
. Inhibition of the Wnt/beta-catenin pathway

Correct Answer & Explanation

. Increased intracellular cAMP levels


Explanation

The GNAS gene encodes the alpha subunit of the stimulatory G protein (Gs). A mutation causes constitutive activation of adenylate cyclase, leading to persistently increased levels of intracellular cyclic AMP (cAMP), which disrupts normal osteoblast differentiation.

Question 963

Topic: Bone Tumors

An 18-year-old male complains of deep, aching pain in his right thigh that is worse at night and dramatically relieved by ibuprofen. Radiographs reveal a 1 cm radiolucent nidus surrounded by intense reactive sclerosis in the femoral diaphysis. What is the most common anatomic location for this type of lesion?

. Proximal femur
. Distal tibia
. Posterior elements of the spine
. Phalanges of the hand
. Pelvis

Correct Answer & Explanation

. Proximal femur


Explanation

The clinical presentation and radiographic findings are classic for an osteoid osteoma. More than 50% of osteoid osteomas occur in the long bones of the lower extremity, with the proximal femur being the most common specific anatomic location.

Question 964

Topic: Bone Tumors

A 45-year-old female presents with persistent, deep right shoulder pain. Radiographs reveal a 5 cm radiolucent lesion with stippled calcifications in the proximal humerus. MRI shows endosteal scalloping involving 80% of the cortical thickness. What is the most likely diagnosis?

. Enchondroma
. Bone infarct
. Low-grade chondrosarcoma
. Chondroblastoma
. Osteosarcoma

Correct Answer & Explanation

. Low-grade chondrosarcoma


Explanation

Endosteal scalloping greater than two-thirds of the cortical thickness and the presence of pain in a large proximal long bone lesion strongly suggest low-grade chondrosarcoma over an enchondroma.

Question 965

Topic: Bone Tumors

A 16-year-old male is diagnosed with an osteoblastic osteosarcoma of the distal femur. What is the most sensitive imaging modality for detecting 'skip metastases' within the same bone?

. CT scan of the lower extremity without contrast
. Technetium-99m bone scan
. PET-CT scan
. MRI of the entire femur (T1-weighted sequences)
. Ultrasound of the thigh

Correct Answer & Explanation

. MRI of the entire femur (T1-weighted sequences)


Explanation

T1-weighted MRI of the entire involved bone is the gold standard for identifying skip metastases in osteosarcoma. Their presence significantly alters surgical planning and worsens the prognosis.

Question 966

Topic: Bone Tumors

Recent genomic profiling has identified specific somatic mutations that are highly prevalent in solitary enchondromas, central chondrosarcomas, and syndromic enchondromatosis. Which of the following mutations is most characteristically involved?

. TP53
. RB1
. IDH1 or IDH2
. EXT1 or EXT2
. GNAS

Correct Answer & Explanation

. IDH1 or IDH2


Explanation

Mutations in the isocitrate dehydrogenase genes (IDH1 and IDH2) are found in the vast majority of enchondromas and central chondrosarcomas. They result in the production of an oncometabolite, 2-hydroxyglutarate, which alters cellular epigenetics.

Question 967

Topic: Bone Tumors

A 15-year-old male complains of chronic knee pain. Radiographs reveal an eccentric, lytic lesion in the distal femoral epiphysis that crosses an open physis. Histology shows polygonal cells with grooved nuclei and fine, pericellular calcifications. What is the diagnosis?

. Chondroblastoma
. Chondrosarcoma
. Enchondroma
. Chondromyxoid fibroma
. Osteosarcoma

Correct Answer & Explanation

. Chondroblastoma


Explanation

Chondroblastoma characteristically occurs in the epiphysis or apophysis of young patients. Histologic hallmarks include mononuclear chondroblasts with grooved nuclei (coffee bean appearance) and pericellular 'chicken-wire' calcification.

Question 968

Topic: Bone Tumors

A 14-year-old girl is diagnosed with a conventional high-grade intramedullary osteosarcoma of the distal femur. What is the standard neoadjuvant chemotherapy regimen utilized to improve survival and prevent metastasis?

. Methotrexate, Doxorubicin (Adriamycin), and Cisplatin
. Ifosfamide and Etoposide
. Vincristine, Doxorubicin, and Cyclophosphamide
. Imatinib mesylate
. Denosumab

Correct Answer & Explanation

. Methotrexate, Doxorubicin (Adriamycin), and Cisplatin


Explanation

The standard of care for high-grade osteosarcoma is the 'MAP' regimen, consisting of high-dose Methotrexate, Adriamycin (Doxorubicin), and Cisplatin. This regimen significantly improves long-term survival by eradicating micrometastatic disease.

Question 969

Topic: Bone Tumors

A 26-year-old woman is evaluated for a localized mass on the surface of her proximal tibia. Radiographs reveal saucerization of the underlying cortex and a sclerotic margin.

Which radiographic feature best differentiates this lesion from a periosteal osteosarcoma?

. Saucerization of the underlying cortex with a sclerotic rim
. Sunburst periosteal reaction with perpendicular bone formation
. Presence of a Codman triangle
. Medullary continuity with the marrow cavity
. Popcorn calcification within the medullary canal

Correct Answer & Explanation

. Saucerization of the underlying cortex with a sclerotic rim


Explanation

Periosteal chondroma typically causes saucerization (a scallop/depression) of the underlying cortex with a thickened sclerotic rim. In contrast, periosteal osteosarcoma typically shows aggressive perpendicular new bone formation (sunburst) without the mature sclerotic rim.

Question 970

Topic: Bone Tumors

A 45-year-old asymptomatic woman undergoes knee radiography for mild osteoarthritis. An incidental 3-cm lobulated, calcified metaphyseal lesion is found in the distal femur. MRI demonstrates lobular hyperintensity on T2-weighted images without cortical breakthrough or soft tissue extension. Which genetic mutation is most commonly associated with this specific tumor's pathogenesis?

. EXT1 or EXT2 mutations
. IDH1 or IDH2 mutations
. GNAS1 mutations
. t(11;22) translocation
. p53 mutations

Correct Answer & Explanation

. IDH1 or IDH2 mutations


Explanation

Enchondromas and chondrosarcomas are frequently associated with somatic mutations in isocitrate dehydrogenase 1 and 2 (IDH1/IDH2). EXT mutations are seen in osteochondromas, while GNAS1 is associated with fibrous dysplasia.

Question 971

Topic: Bone Tumors

A 40-year-old female presents with shoulder pain. Radiographs reveal a purely lytic lesion confined to the epiphysis of the proximal humerus. Histology demonstrates cells with abundant clear cytoplasm, distinct borders, and scattered multinucleated giant cells within a cartilaginous background. What is the most likely diagnosis?

. Conventional chondrosarcoma
. Chondroblastoma
. Clear cell chondrosarcoma
. Enchondroma
. Periosteal chondroma

Correct Answer & Explanation

. Clear cell chondrosarcoma


Explanation

Clear cell chondrosarcoma typically presents as a lytic lesion in the epiphysis of long bones (often proximal femur or humerus) in adults. Chondroblastoma also occurs in the epiphysis but usually in younger, skeletally immature patients.

Question 972

Topic: Bone Tumors
A 19-year-old female presents with a small (< 2 cm), painless cartilaginous lesion on the surface of the proximal humerus cortex. Histologically, it shows hypercellularity and binucleate cells. What clinical or radiographic feature distinguishes this periosteal chondroma from a periosteal chondrosarcoma?
. Presence of binucleate cells
. Cortical saucerization
. Size of the lesion and lack of soft tissue mass invasion
. Presence of cartilaginous matrix
. Sclerotic periosteal reaction

Correct Answer & Explanation

. Size of the lesion and lack of soft tissue mass invasion


Explanation

Periosteal chondromas often exhibit hypercellularity and atypia mimicking malignancy. They are distinguished from periosteal chondrosarcomas primarily by their small size (< 3 cm) and lack of soft tissue invasion.

Question 973

Topic: Bone Tumors

A 24-year-old male presents with a mildly painful palpable mass on the proximal humerus. Radiographs reveal a surface lesion with cortical saucerization and a sclerotic periosteal reaction at the proximal and distal margins.

What is the most likely diagnosis?

. Periosteal osteosarcoma
. Parosteal osteosarcoma
. Periosteal chondroma
. Osteochondroma
. Myositis ossificans

Correct Answer & Explanation

. Periosteal chondroma


Explanation

Periosteal chondromas typically present in young adults as surface lesions causing saucerization of the underlying cortex with a sclerotic margin. They are usually less than 3 cm in size and lack medullary involvement.

Question 974

Topic: Bone Tumors

An asymptomatic 35-year-old woman has a hand radiograph taken after a minor sprain, revealing the lesion shown.

Recent molecular studies show that solitary lesions of this type are most strongly associated with somatic mutations in which of the following genes?

. EXT1
. GNAS
. IDH1 and IDH2
. TP53
. RB1

Correct Answer & Explanation

. IDH1 and IDH2


Explanation

The image shows a solitary enchondroma, characterized by a central radiolucent lesion with stippled calcifications. Somatic mutations in IDH1 and IDH2 are found in the vast majority of solitary enchondromas and central chondrosarcomas.

Question 975

Topic: Bone Tumors

A 24-year-old male presents with a painless palpable mass on the proximal humerus. Radiographs show a surface-based radiolucent lesion with a well-defined sclerotic border and overhanging cortical edges. Which of the following radiographic features best differentiates this lesion from a juxtacortical (periosteal) chondrosarcoma?

. Presence of a sunburst periosteal reaction
. Medullary cavity involvement
. Lesion size less than 3 cm
. Presence of a Codman triangle
. A large unmineralized soft-tissue mass

Correct Answer & Explanation

. Lesion size less than 3 cm


Explanation

Periosteal chondromas are benign surface lesions that are typically smaller than 3 cm with a sclerotic margin. Periosteal chondrosarcomas present similarly but are usually larger than 3-5 cm and may lack a distinct sclerotic cortical margin.

Question 976

Topic: Bone Tumors

A 42-year-old woman presents with persistent hip pain. Radiographs demonstrate an expansile, lytic epiphyseal lesion in the proximal femur with sharp margins. Histologic evaluation shows cells with abundant clear cytoplasm and distinct cell membranes intermixed with areas of reactive bone formation. What is the most likely diagnosis?

. Chondroblastoma
. Clear cell chondrosarcoma
. Giant cell tumor of bone
. Enchondroma
. Osteosarcoma

Correct Answer & Explanation

. Clear cell chondrosarcoma


Explanation

Clear cell chondrosarcoma classically presents as an epiphyseal lytic lesion in adults (typically older than those with chondroblastomas). The presence of clear cytoplasm and reactive bone is a histologic hallmark.

Question 977

Topic: Bone Tumors

A 20-year-old male presents with chronic knee pain. Imaging reveals an eccentric, purely lytic lesion in the proximal tibial metaphysis with a well-demarcated sclerotic margin. Histology shows lobules of stellate and spindle-shaped cells in a myxoid background, with an increased concentration of cells at the periphery of the lobules. What is the diagnosis?

. Chondromyxoid fibroma
. Chondroblastoma
. Enchondroma
. Non-ossifying fibroma
. Low-grade chondrosarcoma

Correct Answer & Explanation

. Chondromyxoid fibroma


Explanation

Chondromyxoid fibroma classically presents as an eccentric metaphyseal lytic lesion. Histologically, it features chondroid lobules with myxoid tissue, stellate cells, and hypercellular peripheries.

Question 978

Topic: Bone Tumors

A 14-year-old boy completes neoadjuvant chemotherapy and wide resection for a distal femur osteosarcoma. Two years later, a surveillance chest CT reveals three new, unilateral peripheral lung nodules (largest 1.5 cm) with no other evidence of disease. What is the most appropriate next step in management?

. Transition to palliative hospice care
. Systemic chemotherapy alone
. Unilateral whole-lung irradiation
. Pulmonary metastasectomy
. Radiofrequency ablation of the nodules

Correct Answer & Explanation

. Pulmonary metastasectomy


Explanation

Surgical resection of isolated, completely resectable pulmonary metastases (metastasectomy) offers the best chance for prolonged survival in osteosarcoma patients. Chemotherapy may be added, but surgical removal is the cornerstone of treating limited pulmonary relapse.

Question 979

Topic: Bone Tumors

A 16-year-old girl undergoes radiographic evaluation after a minor fall, revealing an incidental proximal femoral lesion (Figure A). A biopsy is performed (Figure B). The histologic presence of spicules of woven bone without osteoblastic rimming in a bland fibrous stroma is pathognomonic for which of the following conditions?

. Osteosarcoma
. Osteoblastoma
. Fibrous dysplasia
. Nonossifying fibroma
. Unicameral bone cyst

Correct Answer & Explanation

. Fibrous dysplasia


Explanation

Correct Answer: CThe histologic description of 'Chinese character' spicules of woven bone lacking osteoblastic rimming, set within a bland fibrous background, is the classic hallmark of fibrous dysplasia. While the radiographic appearance can sometimes mimic other lesions, the histology is diagnostic. In asymptomatic patients without impending fracture, observation is appropriate.

Question 980

Topic: Bone Tumors

A 23-year-old man presents with right posterolateral knee pain that is worse at night and relieved by NSAIDs. Imaging and histology are shown. The histologic specimen demonstrates a nidus of vascular, cellular stroma with immature woven bone trabeculae. What is the currently preferred minimally invasive treatment for this lesion?

. Intralesional injection of corticosteroids
. Percutaneous radiofrequency ablation
. Cryotherapy with liquid nitrogen
. Embolization of the feeding vessels
. Radiation therapy

Correct Answer & Explanation

. Percutaneous radiofrequency ablation


Explanation

Correct Answer: BThe clinical presentation (night pain relieved by NSAIDs), radiographic appearance (cortically based lucent nidus with surrounding sclerosis), and histology (vascular stroma with plump osteoblasts and woven bone) are diagnostic of an osteoid osteoma. Percutaneous radiofrequency ablation (RFA), typically performed under CT guidance, has become the preferred and highly successful minimally invasive treatment for most osteoid osteomas.