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Question 461

Topic: Bone Tumors

A 24-year-old female presents with a painless, slow-growing mass on the posterior aspect of her distal femur. Radiographs reveal a heavily ossified, lobulated mass on the cortical surface with a radiolucent cleft separating the tumor from the underlying cortex. What is the most likely diagnosis?

. Periosteal osteosarcoma
. Parosteal osteosarcoma
. High-grade surface osteosarcoma
. Osteochondroma
. Myositis ossificans

Correct Answer & Explanation

. Parosteal osteosarcoma


Explanation

Parosteal osteosarcoma is a low-grade surface osteosarcoma classically found on the posterior distal femur. The radiolucent cleft between the heavily ossified tumor mass and the host bone cortex is known as the "string sign".

Question 462

Topic: Bone Tumors

A 14-year-old boy complains of right thigh pain that is worse at night and dramatically relieved by ibuprofen. CT scan shows a 7 mm radiolucent nidus surrounded by dense sclerosis in the femoral diaphysis. What is the primary mediator responsible for his specific pain pattern?

. Histamine
. Bradykinin
. Interleukin-1
. Prostaglandin E2
. Substance P

Correct Answer & Explanation

. Prostaglandin E2


Explanation

Osteoid osteomas characteristically secrete high levels of Prostaglandin E2 (PGE2) from the nidus. This leads to intense, night-time pain that is highly responsive to NSAIDs.

Question 463

Topic: Bone Tumors

A 55-year-old man presents with an enlarging, painful mass in his proximal femur. Radiographs show a lytic lesion with 'popcorn' calcifications and endosteal scalloping. What is the standard of care for a conventional high-grade chondrosarcoma?

. Neoadjuvant chemotherapy followed by wide surgical resection
. Wide surgical resection alone
. Intralesional curettage with phenol adjuvant
. Definitive high-dose radiation therapy
. Isolated limb perfusion with melphalan

Correct Answer & Explanation

. Wide surgical resection alone


Explanation

Conventional chondrosarcomas are notoriously resistant to both chemotherapy and radiation therapy due to their poor vascularity and slow growth fraction. Wide surgical resection is the primary and most effective definitive treatment.

Question 464

Topic: Bone Tumors

A 22-year-old male presents with dull, aching pain in his mid-back that is not significantly relieved by ibuprofen. Imaging shows a 3.5 cm lytic lesion with central mineralization in the posterior elements of T8. Histology demonstrates interlacing trabeculae of woven bone lined by prominent osteoblasts. What is the most likely diagnosis?

. Osteoid osteoma
. Osteoblastoma
. Aneurysmal bone cyst
. Giant cell tumor
. Osteosarcoma

Correct Answer & Explanation

. Osteoblastoma


Explanation

The histology is identical to an osteoid osteoma, but the size (>2 cm), location in the spine's posterior elements, and lack of dramatic response to NSAIDs are classic for osteoblastoma. Unlike osteoid osteomas, osteoblastomas can be locally aggressive.

Question 465

Topic: Bone Tumors
A 16-year-old boy presents with multiple non-ossifying fibromas (NOFs), café-au-lait macules, and intellectual disability. Genetic testing for NF1 is negative. What is the most likely diagnosis?
. McCune-Albright syndrome
. Jaffe-Campanacci syndrome
. Ollier disease
. Maffucci syndrome
. Mazabraud syndrome

Correct Answer & Explanation

. Jaffe-Campanacci syndrome


Explanation

Jaffe-Campanacci syndrome is characterized by multiple NOFs, café-au-lait spots, and intellectual disability. It mimics NF1 clinically but lacks the NF1 gene mutation.

Question 466

Topic: Bone Tumors

A 15-year-old male complains of right thigh pain that is significantly worse at night and dramatically improves 30 minutes after taking ibuprofen. Radiographs show a 1 cm radiolucent nidus surrounded by dense reactive sclerosis in the femoral diaphysis. What biochemical mediator is produced in excess by the central nidus, causing these classic symptoms?

. Interleukin-6 (IL-6)
. Tumor necrosis factor-alpha (TNF-a)
. Prostaglandin E2 (PGE2)
. Matrix metalloproteinase-9 (MMP-9)
. Transforming growth factor-beta (TGF-b)

Correct Answer & Explanation

. Prostaglandin E2 (PGE2)


Explanation

Osteoid osteomas classically present with night pain relieved by NSAIDs due to the exceptionally high levels of Prostaglandin E2 (PGE2) secreted by the central nidus. This robust PGE2 production drives both the intense pain and the surrounding reactive sclerosis.

Question 467

Topic: Bone Tumors
A 65-year-old man presents with back pain and hypercalcemia. Radiographs show multiple "punched-out" lytic lesions in the skull and vertebral bodies. A bone marrow aspirate reveals >10% clonal plasma cells. Which of the following tests is most appropriate to confirm the presence of the abnormal protein associated with this condition?
. Serum alkaline phosphatase
. Serum and urine protein electrophoresis
. Flow cytometry for CD20
. Tartrate-resistant acid phosphatase (TRAP) stain
. Polymerase chain reaction for t(14;18)

Correct Answer & Explanation

. Serum and urine protein electrophoresis


Explanation

Multiple myeloma is characterized by the neoplastic proliferation of plasma cells, leading to a monoclonal gammopathy. Serum and urine protein electrophoresis (SPEP/UPEP) detect the diagnostic M-spike and Bence-Jones proteins.

Question 468

Topic: Bone Tumors

A 19-year-old male complains of severe, aching pain in his right shin that is worse at night and relieved by ibuprofen. Radiographs show a dense cortical thickening with a small 6 mm radiolucent nidus. What is the primary pain-generating mechanism in this lesion?

. Mechanical instability of the cortex
. High local concentrations of Prostaglandin E2 (PGE2)
. Compression of the superficial peroneal nerve
. Rapid expansion of the periosteum
. Histamine release from mast cells

Correct Answer & Explanation

. High local concentrations of Prostaglandin E2 (PGE2)


Explanation

Osteoid osteomas produce high levels of PGE2 via cyclooxygenase enzymes, causing intense local pain that is classically worse at night. This pathophysiology explains the rapid and dramatic pain relief provided by NSAIDs.

Question 469

Topic: Bone Tumors

A 65-year-old man presents with severe back pain and a solitary lytic lesion in the L3 vertebral body. Laboratory testing reveals an M spike on serum protein electrophoresis. What imaging modality is considered the standard of care for staging skeletal involvement in this disease?

. Technetium-99m bone scan
. Whole-body low-dose CT or PET-CT
. Ultrasound of the abdomen
. Gadolinium-enhanced MRI of the brain
. Plain radiography limited to symptomatic areas

Correct Answer & Explanation

. Whole-body low-dose CT or PET-CT


Explanation

Whole-body low-dose CT or PET-CT is the standard imaging modality for the skeletal survey in multiple myeloma. Technetium-99m bone scans are often false-negative because myeloma lesions are purely lytic and lack the osteoblastic activity required for tracer uptake.

Question 470

Topic: Bone Tumors

A 19-year-old male complains of severe, progressively worsening right thigh pain that occurs primarily at night and is dramatically relieved by NSAIDs. Imaging shows a radiolucent nidus surrounded by dense reactive sclerosis. What is the most definitive, minimally invasive treatment?

. Wide en bloc resection
. Chemotherapy followed by local resection
. Radiofrequency ablation (RFA)
. Extended curettage with phenol adjuvant
. Intravenous bisphosphonates

Correct Answer & Explanation

. Radiofrequency ablation (RFA)


Explanation

The clinical and radiographic presentation is classic for an osteoid osteoma. CT-guided radiofrequency ablation (RFA) is the definitive, minimally invasive standard of care, offering excellent success rates and minimal morbidity compared to open surgery.

Question 471

Topic: Bone Tumors

An 18-year-old male presents with painful scoliosis. Imaging reveals a 2.5 cm radiolucent lesion with a mineralized matrix in the posterior elements of L3. The pain is persistent and is only partially relieved by nonsteroidal anti-inflammatory drugs (NSAIDs). What is the most likely diagnosis?

. Osteoid osteoma
. Osteoblastoma
. Aneurysmal bone cyst
. Giant cell tumor
. Chondroblastoma

Correct Answer & Explanation

. Osteoblastoma


Explanation

Osteoblastomas are histologically similar to osteoid osteomas but are distinguished by being larger (>1.5-2.0 cm), exhibiting progressive growth, and causing pain that is less responsive to NSAIDs. They commonly occur in the posterior elements of the spine.

Question 472

Topic: Bone Tumors

A 65-year-old man presents with new-onset back pain, anemia, and an M-spike on serum protein electrophoresis. Radiographs show a compression fracture of T12 and punched-out lytic skull lesions. Which of the following imaging modalities is most sensitive for detecting additional early osseous lesions in this patient?

. Technetium-99m bone scan
. Skeletal survey radiographs
. Whole-body MRI
. Dual-energy X-ray absorptiometry (DEXA) scan
. Diagnostic skeletal ultrasound

Correct Answer & Explanation

. Whole-body MRI


Explanation

Whole-body MRI (or PET-CT) is highly sensitive for detecting bone marrow involvement in multiple myeloma. Technetium-99m bone scans are notoriously insensitive because myeloma lesions are purely osteolytic and lack the osteoblastic response needed for tracer uptake.

Question 473

Topic: Bone Tumors

A 22-year-old male presents with dull, aching pain in his mid-back that is constant, night-predominant, and only partially relieved by ibuprofen. CT scan shows a 3.5 cm expansile lytic lesion in the posterior elements of T8 with a distinct radiolucent nidus and surrounding sclerosis. What is the most likely diagnosis?

. Osteoid osteoma
. Osteosarcoma
. Aneurysmal bone cyst
. Osteoblastoma
. Chondromyxoid fibroma

Correct Answer & Explanation

. Osteoblastoma


Explanation

While similar histologically to an osteoid osteoma, an osteoblastoma is larger (typically >2 cm), often found in the posterior elements of the spine, and has pain that is less consistently relieved by NSAIDs.

Question 474

Topic: Bone Tumors

A 16-year-old male complains of severe, aching thigh pain that is worse at night and dramatically relieved by NSAIDs. Radiographs demonstrate a 1-cm radiolucent nidus surrounded by dense sclerotic bone in the femoral diaphysis. What is the preferred definitive treatment if medical management fails?

. Wide en bloc resection
. Intralesional curettage and bone grafting
. Radiofrequency ablation (RFA)
. Extended course of systemic chemotherapy
. External beam radiation therapy

Correct Answer & Explanation

. Radiofrequency ablation (RFA)


Explanation

The clinical and radiographic presentation is classic for an osteoid osteoma. If medical management (NSAIDs) is unsuccessful or poorly tolerated, CT-guided radiofrequency ablation (RFA) is the minimally invasive treatment of choice.

Question 475

Topic: Bone Tumors

An 8-year-old girl is evaluated for precocious puberty, irregular cafe-au-lait macules, and recurrent fractures. Radiographs reveal polyostotic expansile, radiolucent bone lesions with a ground-glass appearance. What is the underlying genetic mutation?

. EXT1
. FGFR3
. GNAS1
. COL1A1
. RUNX2

Correct Answer & Explanation

. GNAS1


Explanation

This patient presents with McCune-Albright syndrome, characterized by polyostotic fibrous dysplasia, cafe-au-lait spots (coast of Maine), and endocrine abnormalities. It is caused by an activating post-zygotic somatic mutation in the GNAS1 gene. This leads to increased intracellular cAMP, disrupting normal osteoblast differentiation.

Question 476

Topic: Bone Tumors

A 7-year-old female presents with precocious puberty, cafe-au-lait spots with irregular 'coast of Maine' borders, and an antalgic gait. Radiographs show a large, expansile lytic lesion in the proximal femur. This syndrome is caused by a somatic, post-zygotic activating mutation in which gene?

. GNAS
. EXT1
. NF1
. IDH1
. P53

Correct Answer & Explanation

. GNAS


Explanation

McCune-Albright syndrome features polyostotic fibrous dysplasia, cafe-au-lait macules, and endocrinopathies like precocious puberty. It is caused by an activating missense mutation in the GNAS gene, which encodes the alpha subunit of a stimulatory G protein.

Question 477

Topic: Bone Tumors

A 3-year-old child is diagnosed with congenital pseudarthrosis of the tibia (CPT). Radiographs show a sclerotic, atrophic non-union in the middle third of the tibia. He has a history of multiple casting attempts that have failed. What is the most critical factor influencing the high failure rate and difficult management of CPT?

. Associated fibrous dysplasia of the tibia.
. Underlying neurofibromatosis type 1 (NF1).
. Inadequate initial immobilization techniques.
. Poor vascularity of the fracture site.
. Parental non-compliance with treatment protocols.

Correct Answer & Explanation

. Underlying neurofibromatosis type 1 (NF1).


Explanation

Congenital pseudarthrosis of the tibia (CPT) is one of the most challenging orthopedic conditions. While CPT is often associated with localized abnormal tissue, the most critical underlying factor for its high failure rate and difficult management is its strong association withNeurofibromatosis type 1 (NF1)(B). Approximately 50-90% of CPT cases are associated with NF1. The pathophysiology of CPT in NF1 is thought to involve aberrant osteoclast activation and abnormal mesenchymal tissue surrounding the pseudarthrosis, which inhibits normal bone healing. This underlying biological defect, rather than just poor vascularity (D), makes healing extremely difficult and prone to recurrence. Fibrous dysplasia (A) is not the primary or most critical underlying factor influencing CPT failure rates; NF1 is the major association. Inadequate initial immobilization (C) can contribute to failure, but the inherent biological problem of CPT, particularly with NF1, makes it prone to failure even with excellent immobilization. Parental non-compliance (E) is a general factor but not themost critical factor influencing the high failure rateof CPTitself.

Question 478

Topic: Bone Tumors

A 7-year-old girl presents with a limp and a leg length discrepancy. Radiographs reveal a ground-glass appearance in the proximal femur with a shepherd's crook deformity. Physical examination shows large, irregular hyperpigmented skin macules with jagged borders. Which of the following endocrine abnormalities is most commonly associated with this patient's syndrome?

. Hypothyroidism
. Precocious puberty
. Hyperparathyroidism
. Adrenal insufficiency
. Diabetes insipidus

Correct Answer & Explanation

. Precocious puberty


Explanation

Correct Answer: Precocious pubertyThe patient's presentation of polyostotic fibrous dysplasia, cafe-au-lait spots with irregular borders (Coast of Maine), and endocrine dysfunction is classic for McCune-Albright syndrome. This syndrome is caused by a post-zygotic somatic activating mutation in the GNAS gene, leading to constitutive activation of the Gs-alpha protein and subsequent overproduction of cAMP. The most common endocrine abnormality in McCune-Albright syndrome is precocious puberty, particularly in females. Other potential but less common endocrine issues include hyperthyroidism, growth hormone excess, and Cushing syndrome.

Question 479

Topic: Bone Tumors

A 14-year-old boy with polyostotic fibrous dysplasia presents with a progressive shepherd's crook deformity of the proximal femur and increasing thigh pain. What is the most appropriate surgical management to prevent impending fracture and correct the deformity?

. Curettage and packing with autologous cancellous bone graft
. Curettage and packing with allograft bone chips
. Valgus osteotomy stabilized with an intramedullary nail
. Valgus osteotomy stabilized with a dynamic hip screw (DHS) and plate
. Resection of the dysplastic segment and endoprosthetic reconstruction

Correct Answer & Explanation

. Valgus osteotomy stabilized with an intramedullary nail


Explanation

Correct Answer: Valgus osteotomy stabilized with an intramedullary nailIn fibrous dysplasia, the normal bone is replaced by weak, woven bone and fibrous tissue. Bone grafting (autograft or allograft) is generally contraindicated because the grafted bone is rapidly resorbed and replaced by dysplastic host bone. For a shepherd's crook deformity (severe varus of the proximal femur), the biomechanically superior treatment is a valgus osteotomy to restore the mechanical axis, stabilized with an intramedullary device (like a reconstruction nail). Intramedullary nails are preferred over plates and screws (like a DHS) because plates create a stress riser at the end of the plate in the weak dysplastic bone, leading to a high risk of peri-implant fracture.

Question 480

Topic: Bone Tumors

A 5-year-old boy presents with asymmetric shortening of his right leg and multiple hard, painless swellings on the fingers of his right hand. Radiographs show multiple radiolucent lesions in the metaphyses and diaphyses of the right femur, tibia, and phalanges, with endosteal scalloping. The left side is completely unaffected. What is the most likely diagnosis?

. Multiple epiphyseal dysplasia
. Maffucci syndrome
. Multiple hereditary exostoses
. Ollier disease
. Osteogenesis imperfecta

Correct Answer & Explanation

. Ollier disease


Explanation

Correct Answer: Ollier diseaseOllier disease (multiple enchondromatosis) is a non-hereditary dysplasia characterized by the presence of multiple enchondromas. A classic clinical feature of Ollier disease is its tendency to be highly asymmetric, often predominantly or exclusively affecting one side of the body. The lesions are typically metaphyseal and diaphyseal radiolucencies with endosteal scalloping. Maffucci syndrome would also present with enchondromas but must include soft tissue hemangiomas. Multiple hereditary exostoses presents with osteochondromas (bony outgrowths), not radiolucent enchondromas.