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Question 6681

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 6682

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 6683

Topic: 10. Pathology and Oncology

A 15-year-old girl is undergoing post-treatment surveillance following wide resection and neoadjuvant chemotherapy for conventional osteosarcoma of the distal femur. What is the most common site of metastasis for this tumor and the primary imaging modality for surveillance?

. Bone; whole-body bone scan
. Lungs; computed tomography (CT) of the chest
. Liver; abdominal ultrasound
. Brain; magnetic resonance imaging (MRI)
. Lymph nodes; positron emission tomography (PET)

Correct Answer & Explanation

. Lungs; computed tomography (CT) of the chest


Explanation

The lungs are the most common site of metastasis for osteosarcoma. Non-contrast CT of the chest is the gold standard for detecting pulmonary metastases during post-treatment surveillance.

Question 6684

Topic: 10. Pathology and Oncology

A 55-year-old man undergoes a biopsy of a large destructive pelvic mass. Histopathology reveals Grade 2 conventional chondrosarcoma. Staging studies are negative for metastasis. What is the most appropriate primary treatment?

. Neoadjuvant chemotherapy followed by wide resection
. Wide surgical resection alone
. Definitive external beam radiation therapy
. Intralesional curettage with adjuvant argon beam coagulation
. Radiofrequency ablation

Correct Answer & Explanation

. Wide surgical resection alone


Explanation

Conventional chondrosarcomas (Grades 2 and 3) are notoriously resistant to both chemotherapy and radiation therapy. Wide surgical resection is the standard of care for curative intent.

Question 6685

Topic: 10. Pathology and Oncology

A 40-year-old man with Multiple Hereditary Exostoses presents with a newly enlarging mass on his right posterior distal femur. MRI reveals an exophytic bone lesion with an overlying hyperintense cartilaginous cap on T2-weighted images. What cartilage cap thickness is highly suspicious for secondary malignant transformation?

. Greater than 2 mm
. Greater than 5 mm
. Greater than 1 cm
. Greater than 2 cm
. Greater than 5 cm

Correct Answer & Explanation

. Greater than 2 cm


Explanation

In adults, an osteochondroma cartilage cap thickness greater than 2 cm on MRI is highly suspicious for secondary malignant transformation to a peripheral chondrosarcoma.

Question 6686

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 6687

Topic: 10. Pathology and Oncology

A 14-year-old boy is diagnosed with Ewing sarcoma of the femoral diaphysis. Staging is performed. The presence of metastasis at diagnosis is the most significant negative prognostic factor. Which of the following are the two most common sites of metastasis for this disease?

. Lung and bone/bone marrow
. Liver and spleen
. Brain and spinal cord
. Lymph nodes and liver
. Lung and brain

Correct Answer & Explanation

. Lung and bone/bone marrow


Explanation

Ewing sarcoma most commonly metastasizes to the lungs and to other bones/bone marrow. A thorough staging evaluation must include chest CT and a bone marrow aspirate/biopsy or PET-CT.

Question 6688

Topic: 10. Pathology and Oncology

A 65-year-old male presents with a pathologic fracture of the humerus through a purely lytic, highly destructive lesion. Staging reveals an unknown primary tumor. Before planning an open biopsy, standard practice requires a CT of the chest, abdomen, and pelvis. Which primary carcinoma is notorious for producing highly vascular lytic metastases that may require pre-operative embolization?

. Prostate carcinoma
. Breast carcinoma
. Renal cell carcinoma
. Gastric carcinoma
. Lung squamous cell carcinoma

Correct Answer & Explanation

. Renal cell carcinoma


Explanation

Renal cell carcinoma and thyroid carcinoma typically produce highly vascular, purely lytic bone metastases. Pre-operative embolization is often recommended prior to biopsy or stabilization to prevent massive hemorrhage.

Question 6689

Topic: 10. Pathology and Oncology

A 60-year-old woman presents with thigh pain. Radiographs show a centrally located lesion in the distal femur with rings and arcs of calcification, alongside a large, destructive, purely lytic unmineralized mass breaching the cortex. Biopsy confirms a bimorphic histologic pattern. What is this entity?

. Mesenchymal chondrosarcoma
. Dedifferentiated chondrosarcoma
. Clear cell chondrosarcoma
. Secondary peripheral chondrosarcoma
. Conventional Grade 3 chondrosarcoma

Correct Answer & Explanation

. Dedifferentiated chondrosarcoma


Explanation

Dedifferentiated chondrosarcoma is defined by the juxtaposition of a low-grade cartilage tumor with a high-grade spindle cell sarcoma (such as osteosarcoma, fibrosarcoma, or UPS). It portends a very poor prognosis.

Question 6690

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 6691

Topic: 10. Pathology and Oncology

A 16-year-old female is diagnosed with osteosarcoma of the distal femur. A full-length MRI of the entire femur is ordered prior to finalizing surgical planning. What is the primary purpose of imaging the entire involved bone?

. To measure accurate cortical thickness for hardware templating
. To identify intramedullary skip metastases
. To assess the conversion of red to yellow marrow
. To evaluate for concomitant deep vein thrombosis
. To plan the precise skin incision lines

Correct Answer & Explanation

. To identify intramedullary skip metastases


Explanation

Complete imaging of the affected bone (e.g., entire femur for a distal femur lesion) is mandatory in osteosarcoma to identify skip metastases, which are discrete medullary tumor foci separated from the primary tumor by normal marrow.

Question 6692

Topic: 10. Pathology and Oncology

A 32-year-old female presents with a surface-based lesion on the posterior distal femur measuring 6 cm. It lacks a sunburst appearance or medullary involvement. Biopsy reveals Grade 2 cartilaginous tissue without malignant osteoid. How does the management of this periosteal chondrosarcoma differ from that of periosteal osteosarcoma?

. It requires aggressive neoadjuvant and adjuvant chemotherapy
. It has a better prognosis and is treated with wide surgical excision alone
. It mandates a therapeutic lymph node dissection
. It is highly sensitive to external beam radiation
. It routinely requires forequarter or hindquarter amputation

Correct Answer & Explanation

. It has a better prognosis and is treated with wide surgical excision alone


Explanation

Periosteal chondrosarcoma is treated primarily with wide surgical resection. Unlike high-grade surface osteosarcomas, it does not typically respond to chemotherapy and has a generally favorable prognosis with adequate surgical margins.

Question 6693

Topic: 10. Pathology and Oncology

A 35-year-old man undergoes knee arthroscopy for mechanical catching. The surgeon finds dozens of white, cartilaginous loose bodies of similar size within the joint space, and the synovium appears thickened. What is the estimated risk of malignant transformation of this condition?

. Less than 5%
. 15 to 20%
. 30 to 40%
. 50 to 60%
. Greater than 90%

Correct Answer & Explanation

. Less than 5%


Explanation

Primary synovial chondromatosis is a benign neoplastic process. The risk of malignant transformation to secondary synovial chondrosarcoma is extremely low, occurring in less than 5% of cases.

Question 6694

Topic: 10. Pathology and Oncology

Which of the following histologic factors correlates most strongly with long-term survival in a patient undergoing treatment for localized conventional osteosarcoma?

. Presence of vascular invasion on initial biopsy
. High mitotic index in the primary tumor
. Tumor necrosis percentage greater than 90% following neoadjuvant chemotherapy
. Predominance of chondroblastic rather than osteoblastic differentiation
. Extent of peritumoral lymphocytic infiltration

Correct Answer & Explanation

. Tumor necrosis percentage greater than 90% following neoadjuvant chemotherapy


Explanation

The most powerful prognostic indicator for long-term survival in patients with non-metastatic osteosarcoma is the histologic response to neoadjuvant chemotherapy, specifically achieving >90% tumor necrosis (a 'good response').

Question 6695

Topic: 10. Pathology and Oncology

A 22-year-old patient presents with a painful mass on the proximal phalanx. Radiographs show a small saucerized surface lesion with a sclerotic margin.

Biopsy confirms a periosteal chondroma. The pain persists despite conservative measures. What is the definitive management?

. Neoadjuvant chemotherapy followed by curettage
. Marginal excision including the underlying cortex
. Wide resection with 5 cm margins
. External beam radiation therapy
. Ray amputation

Correct Answer & Explanation

. Marginal excision including the underlying cortex


Explanation

Symptomatic or enlarging periosteal chondromas are treated with en bloc marginal excision, which includes the removal of the underlying saucerized cortex, to minimize the risk of local recurrence.

Question 6696

Topic: 10. Pathology and Oncology

A 10-year-old child presents with a permeative lesion in the diaphysis of the fibula with an 'onion-skin' periosteal reaction. A core needle biopsy demonstrates sheets of small round blue cells. Which chromosomal translocation is the diagnostic hallmark for the most likely tumor?

. t(11;22) forming EWS-FLI1
. t(X;18) forming SYT-SSX1
. t(2;13) forming PAX3-FOXO1
. t(12;16) forming FUS-DDIT3
. t(9;22) forming BCR-ABL

Correct Answer & Explanation

. t(11;22) forming EWS-FLI1


Explanation

The clinical and histologic picture describes Ewing sarcoma. The diagnostic hallmark is the t(11;22)(q24;q12) translocation, which creates the EWS-FLI1 fusion protein in over 85% of cases.

Question 6697

Topic: 10. Pathology and Oncology

A 45-year-old woman is evaluated for a large, purely lytic sacral lesion. Biopsy shows large cells with abundant clear cytoplasm and distinct borders. Immunohistochemistry is strongly positive for cytokeratin and EMA. What is the most likely diagnosis?

. Chordoma
. Metastatic renal cell carcinoma
. Clear cell chondrosarcoma
. Chondroblastoma
. Ewing sarcoma

Correct Answer & Explanation

. Metastatic renal cell carcinoma


Explanation

While clear cell chondrosarcoma has clear cells, the strong positivity for cytokeratin and EMA in a destructive lytic lesion highly suggests metastatic carcinoma, with renal cell carcinoma being a primary culprit for clear cell morphology. (Chordomas are midline but typified by physaliferous cells and brachyury positivity).

Question 6698

Topic: 10. Pathology and Oncology

A 50-year-old male is being treated for a low-grade central chondrosarcoma of the proximal femur. Which of the following imaging features on MRI is most characteristic of high-grade transformation or dedifferentiation within a pre-existing low-grade cartilage tumor?

. Uniform high signal intensity on T2-weighted images throughout the lesion
. Presence of a new, unmineralized soft tissue mass that lacks high T2 signal
. Thickened cortical bone with dense uniform medullary sclerosis
. Stippled calcifications conforming entirely to the medullary cavity
. Mild endosteal scalloping of less than one-third the cortical thickness

Correct Answer & Explanation

. Presence of a new, unmineralized soft tissue mass that lacks high T2 signal


Explanation

A classic sign of dedifferentiated chondrosarcoma on MRI is a biphasic tumor: a typical high-T2-signal cartilaginous component juxtaposed with a new, distinct unmineralized mass demonstrating lower T2 signal (representing the high-grade non-cartilaginous sarcomatous component).

Question 6699

Topic: 10. Pathology and Oncology

A 15-year-old female presents with multiple hard bony swellings on her hands and bluish, compressible soft tissue nodules on her forearms. Which of the following describes the underlying genetic abnormality and the estimated lifetime risk of malignant transformation in this patient?

. Germline EXT1 mutation; 5-10% risk
. Somatic IDH1/IDH2 mutation; near 100% risk
. Germline RB1 mutation; 20-30% risk
. Somatic GNAS mutation; less than 1% risk
. Germline APC mutation; 50% risk

Correct Answer & Explanation

. Somatic IDH1/IDH2 mutation; near 100% risk


Explanation

This patient has Maffucci syndrome, characterized by multiple enchondromas and soft tissue hemangiomas, driven by somatic mosaic mutations in IDH1 or IDH2. It carries a lifetime risk of malignant transformation (e.g., chondrosarcoma, astrocytoma) approaching 100%, far higher than Ollier disease.

Question 6700

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.