Menu

Question 4841

Topic: 10. Pathology and Oncology

A 65-year-old male undergoes marginal excision of a large, deep, fatty thigh mass initially thought to be a lipoma. Pathology reveals an atypical lipomatous tumor (well-differentiated liposarcoma). Amplification of which gene region is the molecular hallmark of this tumor?

. 12q13-15 (MDM2/CDK4)
. Xp11 (TFE3)
. 22q12 (EWSR1)
. 11q24 (FLI1)
. 17q11 (NF1)

Correct Answer & Explanation

. 12q13-15 (MDM2/CDK4)


Explanation

Atypical lipomatous tumors (well-differentiated liposarcomas) are characterized by the amplification of the 12q13-15 chromosomal region. This leads to the overexpression of MDM2 and CDK4, which can be identified by FISH or immunohistochemistry.

Question 4842

Topic: Bone Tumors

A 9-year-old girl presents with a pathologic fracture of the proximal femur with a "shepherd's crook" deformity. She also has precocious puberty and cafe-au-lait spots with irregular borders. The underlying pathophysiology involves a post-zygotic activating mutation in which of the following?

. Gs alpha protein (GNAS)
. Fibroblast growth factor receptor 3 (FGFR3)
. Patched 1 (PTCH1)
. Runx2
. EXT1

Correct Answer & Explanation

. Gs alpha protein (GNAS)


Explanation

McCune-Albright syndrome consists of polyostotic fibrous dysplasia, endocrine abnormalities (e.g., precocious puberty), and cafe-au-lait spots. It is caused by a somatic activating mutation in the GNAS gene encoding the Gs alpha protein.

Question 4843

Topic: 10. Pathology and Oncology

A 25-year-old male presents with a slowly growing, painful mass near the knee joint. MRI shows a soft tissue mass adjacent to the joint capsule with focal calcifications. Biopsy shows a biphasic spindle cell neoplasm. What is the characteristic chromosomal translocation?

. t(11;22)
. t(X;18)
. t(12;16)
. t(2;13)
. t(9;22)

Correct Answer & Explanation

. t(X;18)


Explanation

Synovial sarcoma frequently presents in young adults near joints, often exhibiting focal calcifications on imaging. It is driven by the t(X;18)(p11;q11) translocation, resulting in the SS18-SSX fusion gene.

Question 4844

Topic: Bone Tumors

A 68-year-old woman presents with generalized bone pain, anemia, and hypercalcemia. Skeletal survey reveals multiple punched-out lytic lesions in the skull and pelvis. Which of the following lab findings is most likely present?

. Elevated alkaline phosphatase
. Elevated parathyroid hormone (PTH)
. Monoclonal spike on serum protein electrophoresis
. Decreased serum creatinine
. Profound hypocalcemia

Correct Answer & Explanation

. Monoclonal spike on serum protein electrophoresis


Explanation

The patient's presentation is classic for multiple myeloma, defined by the CRAB criteria (hypercalcemia, renal failure, anemia, bone lesions). Diagnosis is supported by identifying a monoclonal (M) spike on serum or urine protein electrophoresis.

Question 4845

Topic: 10. Pathology and Oncology

A 30-year-old female presents with a painless, slowly enlarging mass on the posterior aspect of the distal femur. Radiographs demonstrate a dense, ossified mass attached to the posterior cortex with a radiolucent cleft between the tumor and underlying bone. What is the most appropriate management?

. Curettage and bone grafting
. Neoadjuvant chemotherapy followed by wide resection
. Wide surgical resection alone
. Primary radiation therapy
. Observation

Correct Answer & Explanation

. Wide surgical resection alone


Explanation

Parosteal osteosarcoma is a low-grade surface osteosarcoma classically found on the posterior distal femur, featuring a "string sign" (radiolucent cleft). Because it is low grade, it does not typically require chemotherapy and is treated with wide surgical resection alone.

Question 4846

Topic: 10. Pathology and Oncology

A 14-year-old boy presents with knee pain. Radiographs reveal an eccentrically located, sharply marginated lytic lesion with stippled calcifications confined to the proximal tibial epiphysis. Histology shows polygonal cells with longitudinal nuclear grooves and pericellular calcification. What is the diagnosis?

. Giant cell tumor
. Chondroblastoma
. Clear cell chondrosarcoma
. Osteomyelitis
. Aneurysmal bone cyst

Correct Answer & Explanation

. Chondroblastoma


Explanation

Chondroblastoma is a benign cartilage tumor that characteristically occurs in the epiphysis of skeletally immature patients. Histology classically shows chondroblasts with grooved nuclei ("coffee bean" nuclei) and "chicken-wire" pericellular calcification.

Question 4847

Topic: Bone Tumors

A 20-year-old male complains of severe nocturnal back pain relieved by NSAIDs. Imaging reveals a 2.5 cm lytic lesion with surrounding sclerosis in the posterior elements of L4. What makes this lesion most likely an osteoblastoma rather than an osteoid osteoma?

. Location in the posterior elements
. Symptomatic relief with NSAIDs
. Size greater than 2 cm
. Presence of central calcification
. Age of the patient

Correct Answer & Explanation

. Size greater than 2 cm


Explanation

Both osteoid osteoma and osteoblastoma can occur in the posterior elements of the spine and cause pain. However, osteoblastomas are distinguished primarily by their larger size, typically defined as greater than 1.5 to 2.0 cm.

Question 4848

Topic: 10. Pathology and Oncology
A 50-year-old woman undergoes wide resection of a high-grade undifferentiated pleomorphic sarcoma of the thigh. The pathology report indicates a negative but narrow (< 1 mm) margin along a major motor nerve. The epineurium was left intact. Which of the following is the most appropriate next step in management?
. Immediate re-excision to achieve a 2 cm margin
. Adjuvant radiation therapy
. Adjuvant targeted therapy with Imatinib
. Amputation
. Observation only

Correct Answer & Explanation

. Adjuvant radiation therapy


Explanation

In the setting of a high-grade soft tissue sarcoma with close but negative margins on a critical structure (like a major nerve with an intact epineurium), adjuvant radiation therapy is indicated to optimize local control without causing major functional morbidity.

Question 4849

Topic: 10. Pathology and Oncology

A 12-year-old girl presents with a rapidly expanding, painful, eccentrically located lytic lesion in the distal femur. MRI reveals multiple fluid-fluid levels. Biopsy confirms an Aneurysmal Bone Cyst (ABC). Primary ABCs are often associated with a recurrent chromosomal translocation resulting in the upregulation of which gene?

. USP6
. RUNX2
. MDM2
. TP53
. GNAS

Correct Answer & Explanation

. USP6


Explanation

Primary aneurysmal bone cysts are now recognized as true neoplasms rather than reactive processes. They are driven by t(16;17) translocations that result in the upregulation of the USP6 gene.

Question 4850

Topic: 10. Pathology and Oncology

A 35-year-old female presents with a slow-growing, painful mass in her anterior tibial diaphysis. Radiographs show a multi-loculated, "soap-bubble" eccentric osteolytic lesion in the anterior cortex. Histology reveals epithelial cell islands in a fibrous stroma. What is the recommended treatment?

. Curettage and cryotherapy
. Intralesional injection of steroids
. Wide surgical resection
. Radiation therapy
. Chemotherapy followed by curettage

Correct Answer & Explanation

. Wide surgical resection


Explanation

Adamantinoma is a low-grade malignant bone tumor that almost exclusively occurs in the anterior tibial diaphysis and exhibits biphasic epithelial and fibrous features. It is resistant to radiation and chemotherapy, requiring wide surgical resection.

Question 4851

Topic: 10. Pathology and Oncology

A 15-year-old boy completes neoadjuvant chemotherapy for Ewing sarcoma of the fibula. He subsequently undergoes wide resection. Pathologic evaluation of the resected specimen is performed. Which of the following is the most significant prognostic factor for overall survival at this stage?

. Initial tumor volume
. Percentage of tumor necrosis in the resected specimen
. Presence of the t(11;22) translocation
. Surgical margins greater than 5 cm
. Age of the patient

Correct Answer & Explanation

. Percentage of tumor necrosis in the resected specimen


Explanation

In both osteosarcoma and Ewing sarcoma, the histologic response to neoadjuvant chemotherapy (quantified as the percentage of tumor necrosis in the resection specimen) is one of the most powerful prognostic indicators for overall survival.

Question 4852

Topic: 10. Pathology and Oncology

A 55-year-old woman with metastatic breast cancer presents with thigh pain. Radiographs reveal a mixed blastic and lytic lesion in the pertrochanteric region of the femur. According to Mirels' criteria, which of the following characteristics contributes the highest number of points toward the total score?

. Blastic nature of the lesion
. Lytic nature of the lesion
. Upper extremity location
. Size less than 1/3 of the cortex
. Absence of pain

Correct Answer & Explanation

. Lytic nature of the lesion


Explanation

Mirels' criteria assesses the risk of pathologic fracture based on site, pain, lesion nature, and size. A purely lytic lesion scores 3 points (the maximum for that category), whereas a blastic lesion scores 1 and mixed scores 2.

Question 4853

Topic: 10. Pathology and Oncology

A 19-year-old male with Multiple Hereditary Exostoses (MHE) notes a sudden increase in the size of a long-standing painless mass on his proximal medial tibia, now accompanied by pain. What is the most reliable MRI feature suggesting malignant transformation to secondary chondrosarcoma?

. Cartilage cap thickness greater than 2 cm
. Bone marrow continuity between the lesion and native bone
. Presence of a stalk (pedunculated shape)
. Cortical continuity
. Edema in the vastus medialis

Correct Answer & Explanation

. Cartilage cap thickness greater than 2 cm


Explanation

Malignant transformation of an osteochondroma into a secondary chondrosarcoma is suspected when there is new pain or growth in a skeletally mature patient. On MRI, a cartilage cap thickness exceeding 1.5 to 2.0 cm is highly suggestive of malignancy.

Question 4854

Topic: 10. Pathology and Oncology

A 15-year-old boy presents with an enlarging, painful mass in his distal femur. Radiographs display a "sunburst" periosteal reaction and a Codman triangle. Core needle biopsy reveals malignant osteoid. Genetic testing of the tumor cells is most likely to show abnormalities in which of the following tumor suppressor genes?

. BRCA1
. TP53
. APC
. PTEN
. VHL

Correct Answer & Explanation

. TP53


Explanation

Osteosarcoma is strongly associated with mutations in the RB1 and TP53 tumor suppressor genes. Patients with Li-Fraumeni syndrome (germline TP53 mutation) and hereditary retinoblastoma (RB1 mutation) have a significantly increased risk of developing osteosarcoma.

Question 4855

Topic: 10. Pathology and Oncology

A 60-year-old male presents with a large, slow-growing pelvic mass. Imaging shows a lytic lesion with "popcorn" calcifications in the right ilium. Biopsy confirms a grade II (intermediate) chondrosarcoma. What is the most appropriate primary treatment modality?

. Neoadjuvant chemotherapy followed by wide resection
. Radiation therapy alone
. Wide surgical resection alone
. Intralesional curettage and cementation
. Targeted medical therapy with Denosumab

Correct Answer & Explanation

. Wide surgical resection alone


Explanation

Conventional chondrosarcomas are generally resistant to both chemotherapy and radiation therapy. Wide surgical resection with negative margins is the primary and most effective treatment for intermediate and high-grade chondrosarcomas.

Question 4856

Topic: Bone Tumors

A 22-year-old male presents with a 6-month history of a dull, aching pain in his posterior thoracic spine that is not relieved by aspirin. CT imaging reveals a 3.5 cm expansile, radiolucent lesion in the T8 posterior elements. What is the most likely diagnosis?

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

Correct Answer & Explanation

. Osteoblastoma


Explanation

Osteoblastoma typically presents in the posterior elements of the spine in young adults. It is histologically similar to osteoid osteoma but is distinguished by being larger (>2 cm), exhibiting progressive growth, and being less responsive to NSAIDs.

Question 4857

Topic: 10. Pathology and Oncology

A 65-year-old male with a history of nephrectomy for renal cell carcinoma presents with a destructive, lytic lesion of the proximal humerus and an impending fracture. Prophylactic stabilization with an intramedullary nail is planned. What critical step should be taken prior to surgery?

. Neoadjuvant radiation therapy
. Preoperative arterial embolization
. Initiation of intravenous bisphosphonates
. Neoadjuvant chemotherapy
. Preoperative bone marrow biopsy

Correct Answer & Explanation

. Preoperative arterial embolization


Explanation

Renal cell carcinoma and thyroid carcinoma metastases to bone are notoriously hypervascular. Preoperative arterial embolization is strongly recommended 24-48 hours before surgical stabilization to minimize the risk of massive intraoperative hemorrhage.

Question 4858

Topic: 10. Pathology and Oncology

A 30-year-old female presents with a slow-growing, painful mass deep in the plantar aspect of her foot. Biopsy reveals a biphasic tumor with both epithelial and spindle cell components. Which genetic translocation is diagnostic for this tumor?

. t(11;22)
. t(12;16)
. t(X;18)
. t(2;13)
. t(9;22)

Correct Answer & Explanation

. t(X;18)


Explanation

Synovial sarcoma is characterized by the t(X;18) translocation, resulting in the SYT-SSX fusion gene. It commonly presents as a deep seated mass in the extremities of young adults, often near joints but rarely intra-articular.

Question 4859

Topic: Bone Tumors

A 14-year-old girl presents with a rapidly enlarging, painful mass in her proximal humerus. Radiographs show an eccentric, expansile radiolucent lesion. MRI demonstrates multiple fluid-fluid levels. If a primary neoplastic process is confirmed, which gene rearrangement is characteristic of this lesion?

. GNAS
. USP6
. EXT1
. RUNX2
. COL1A1

Correct Answer & Explanation

. USP6


Explanation

Primary aneurysmal bone cysts (ABCs) are now known to be true neoplasms driven by the USP6 (TRE17) gene rearrangement. While fluid-fluid levels on MRI are characteristic of ABCs, they can also be seen in telangiectatic osteosarcoma and giant cell tumors.

Question 4860

Topic: 10. Pathology and Oncology

A 16-year-old boy presents with chronic knee pain. Radiographs reveal a well-defined lytic lesion located exclusively within the epiphysis of the distal femur. Histology demonstrates mononuclear cells, osteoclast-like giant cells, and fine "chicken-wire" calcifications. What is the diagnosis?

. Giant cell tumor
. Clear cell chondrosarcoma
. Chondromyxoid fibroma
. Chondroblastoma
. Osteoblastoma

Correct Answer & Explanation

. Chondroblastoma


Explanation

Chondroblastoma is a rare benign cartilage-producing tumor that characteristically arises in the epiphysis or apophysis of long bones in skeletally immature patients. Histology pathognomonically shows fine "chicken-wire" calcifications surrounding chondroblasts.