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Question 6421

Topic: 10. Pathology and Oncology

A 19-year-old male complains of a dull, aching pain in his left thigh that has been worsening over the past 6 months. The pain is characteristically worse at night and is dramatically relieved by ibuprofen. Radiographs reveal a small radiolucent nidus surrounded by dense sclerotic bone in the proximal femoral diaphysis. What is the most appropriate initial management?

. Wide surgical resection
. Neoadjuvant chemotherapy
. Radiofrequency ablation or trial of NSAIDs
. Intralesional curettage and bone grafting
. Radiation therapy

Correct Answer & Explanation

. Radiofrequency ablation or trial of NSAIDs


Explanation

Correct Answer: Radiofrequency ablation or trial of NSAIDsOsteoid osteoma is a benign primary bone tumor that classically presents with night pain relieved by NSAIDs due to high levels of prostaglandins within the nidus. Initial management can be medical (NSAIDs) or minimally invasive (radiofrequency ablation), which has largely replaced open surgical resection.

Question 6422

Topic: 10. Pathology and Oncology

A 14-year-old boy presents with a painful, swollen mass over his mid-tibial shaft. Radiographs show a permeative, destructive diaphyseal lesion with an 'onion-skin' periosteal reaction. Biopsy reveals small round blue cells. Which chromosomal translocation is most characteristic of this tumor?

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

Correct Answer & Explanation

. t(11;22)


Explanation

Correct Answer: t(11;22)Ewing's sarcoma is a highly malignant primary bone tumor of childhood and adolescence. It is characterized by the t(11;22)(q24;q12) chromosomal translocation in approximately 85% of cases, resulting in the EWS-FLI1 fusion protein.

Question 6423

Topic: 10. Pathology and Oncology

A 32-year-old woman presents with knee pain. Radiographs reveal an eccentric, lytic lesion in the distal femoral epiphysis extending to the subchondral bone, with a 'soap bubble' appearance. Biopsy shows multinucleated giant cells in a background of mononuclear stromal cells. What is the most likely diagnosis?

. Chondroblastoma
. Aneurysmal bone cyst
. Giant cell tumor of bone
. Osteosarcoma
. Enchondroma

Correct Answer & Explanation

. Giant cell tumor of bone


Explanation

Correct Answer: Giant cell tumor of boneGiant cell tumor of bone typically occurs in young adults after physeal closure. It is classically located in the epiphysis or metaphysis of long bones, most commonly around the knee (distal femur, proximal tibia). Radiographically, it appears as an eccentric, lytic lesion extending to the subchondral bone.

Question 6424

Topic: Bone Tumors

A 16-year-old male complains of severe right thigh pain that is worse at night and dramatically relieved by ibuprofen. Radiographs show a 7 mm radiolucent nidus surrounded by dense reactive sclerosis in the proximal femoral diaphysis. What is the most appropriate initial definitive management if medical therapy fails or is not tolerated?

. En bloc resection
. Curettage and bone grafting
. Radiofrequency ablation
. Radiation therapy
. Chemotherapy

Correct Answer & Explanation

. Radiofrequency ablation


Explanation

Correct Answer: Radiofrequency ablationThe presentation is classic for an osteoid osteoma. The lesion produces high levels of prostaglandins, which explains the dramatic relief with NSAIDs. If medical management fails, is not tolerated, or the patient prefers definitive treatment, percutaneous radiofrequency ablation (RFA) is the treatment of choice. It offers high success rates with significantly less morbidity compared to open surgical resection (en bloc or curettage).

Question 6425

Topic: 10. Pathology and Oncology

A 16-year-old boy complains of severe, aching pain in his right thigh that is worse at night and dramatically relieved by ibuprofen. CT scan reveals a 1 cm radiolucent nidus surrounded by dense reactive sclerosis in the proximal femoral diaphysis. What is the primary biochemical mediator responsible for the characteristic pain pattern in this lesion?

. Interleukin-1 (IL-1)
. Tumor Necrosis Factor-alpha (TNF-alpha)
. Prostaglandin E2 (PGE2)
. Substance P
. Bradykinin

Correct Answer & Explanation

. Prostaglandin E2 (PGE2)


Explanation

Correct Answer: COsteoid osteoma (Index 8.1.1) is a benign bone-forming tumor characterized by a small nidus (typically less than 1.5 cm). The nidus produces high levels of Prostaglandin E2 (PGE2) and cyclooxygenase-2 (COX-2). This high concentration of PGE2 causes the intense, characteristic nocturnal pain that is highly responsive to NSAIDs.

Question 6426

Topic: 10. Pathology and Oncology

A 19-year-old male complains of severe, aching pain in his right thigh that is worse at night and dramatically relieved by ibuprofen. Radiographs show a small radiolucent nidus surrounded by dense reactive cortical sclerosis in the proximal femoral diaphysis. The dramatic pain relief from NSAIDs is primarily due to the high concentration of which substance within the nidus?

. Interleukin-1
. Tumor Necrosis Factor-alpha
. Prostaglandin E2
. Substance P
. Bradykinin

Correct Answer & Explanation

. Prostaglandin E2


Explanation

Correct Answer: C (Prostaglandin E2)Osteoid osteoma is a benign bone-forming tumor characterized by a small radiolucent nidus (less than 1.5 cm) surrounded by reactive sclerosis. The nidus produces high levels of Prostaglandin E2 (PGE2), which causes the characteristic night pain that is exquisitely sensitive to NSAIDs or aspirin.

Question 6427

Topic: 10. Pathology and Oncology

A 19-year-old male presents with severe nocturnal thigh pain that is dramatically relieved by NSAIDs. Imaging reveals a 1 cm radiolucent nidus surrounded by dense reactive sclerosis in the proximal femoral diaphysis. What is the primary mechanism by which NSAIDs relieve pain in this specific pathology?

. Inhibition of leukotriene synthesis within the reactive zone.
. Direct suppression of osteoclastic bone resorption.
. Inhibition of high levels of prostaglandins (PGE2) produced by the nidus.
. Reduction of intraosseous pressure via vasoconstriction.
. Blockade of substance P release in the surrounding periosteum.

Correct Answer & Explanation

. Inhibition of high levels of prostaglandins (PGE2) produced by the nidus.


Explanation

Correct Answer: Inhibition of high levels of prostaglandins (PGE2) produced by the nidus.Osteoid osteomas are benign bone-forming tumors characterized by a small radiolucent nidus. The nidus produces exceptionally high levels of prostaglandins, particularly PGE2, which mediate the intense, often nocturnal pain. NSAIDs inhibit cyclooxygenase, thereby reducing prostaglandin synthesis and providing dramatic, characteristic pain relief.

Question 6428

Topic: 10. Pathology and Oncology

A 25-year-old female presents with a painless mass behind her knee. Radiographs reveal a densely ossified, lobulated mass arising from the posterior cortex of the distal femur without medullary involvement. Biopsy confirms a low-grade spindle cell stroma with well-formed woven bone. Amplification of which of the following genes is most characteristic of this lesion?

. USP6
. MDM2
. EWS
. GNAS1
. RUNX2

Correct Answer & Explanation

. MDM2


Explanation

The clinical and radiographic presentation is classic for parosteal osteosarcoma. This low-grade surface osteosarcoma is characterized by ring chromosomes and amplification of the MDM2 and CDK4 genes on chromosome 12q13-15.

Question 6429

Topic: Bone Tumors

A 14-year-old boy presents with a painful scoliosis. Radiographs reveal a right-thoracic scoliotic curve. Advanced imaging shows a 1 cm radiolucent nidus with surrounding sclerosis in the T8 vertebra. Which of the following best describes the most likely location of the lesion and its relationship to the scoliotic curve?

. Vertebral body, on the convexity of the curve
. Vertebral body, on the concavity of the curve
. Posterior elements, on the convexity of the curve
. Posterior elements, on the concavity of the curve
. Intervertebral disc space, directly at the apex

Correct Answer & Explanation

. Posterior elements, on the concavity of the curve


Explanation

Osteoid osteomas of the spine typically arise in the posterior elements (pedicle or lamina). They cause asymmetric muscle spasm, leading to a painful scoliosis with the lesion classically located on the concavity of the curve.

Question 6430

Topic: 10. Pathology and Oncology

A 9-year-old boy presents with a diaphyseal permeative lesion of the femur and periosteal "onion-skin" reaction. Histopathology reveals sheets of small, uniform round blue cells. Cytogenetic analysis is most likely to show which of the following chromosomal translocations?

. t(11;22)(q24;q12)
. t(X;18)(p11;q11)
. t(12;16)(q13;p11)
. t(9;22)(q34;q11)
. t(16;17)(q22;p13)

Correct Answer & Explanation

. t(11;22)(q24;q12)


Explanation

The clinical and histological description is classic for Ewing sarcoma. The t(11;22) translocation, creating the EWS-FLI1 fusion protein, is found in approximately 85% of Ewing sarcoma cases.

Question 6431

Topic: 10. Pathology and Oncology

A 12-year-old boy presents with a painful, swollen thigh. Radiographs demonstrate a permeative diaphyseal lesion with a periosteal 'onion-skin' reaction. A core biopsy confirms a small round blue cell tumor. Which of the following cytogenetic abnormalities is most characteristically associated with this diagnosis?

. t(X;18)(p11;q11)
. t(11;22)(q24;q12)
. t(9;22)(q34;q11)
. t(12;16)(q13;p11)
. t(2;13)(q35;q14)

Correct Answer & Explanation

. t(11;22)(q24;q12)


Explanation

Ewing sarcoma is classically associated with the t(11;22)(q24;q12) translocation, resulting in the EWS-FLI1 fusion protein. The t(X;18) translocation is seen in synovial sarcoma, and t(9;22) is associated with chronic myelogenous leukemia.

Question 6432

Topic: 10. Pathology and Oncology

A 15-year-old girl is diagnosed with conventional high-grade osteosarcoma of the distal femur. She completes neoadjuvant chemotherapy, undergoes wide surgical resection, and the pathology reveals 95% tumor necrosis. What is the most significant prognostic implication of this histologic finding?

. Higher risk of local recurrence
. Need for immediate amputation
. Decreased overall long-term survival
. Improved overall survival rate
. No change in prognosis compared to poor necrosis

Correct Answer & Explanation

. Improved overall survival rate


Explanation

The percentage of tumor necrosis following neoadjuvant chemotherapy is the most important prognostic factor in osteosarcoma. Greater than 90% necrosis characterizes a good responder and is associated with significantly improved long-term survival.

Question 6433

Topic: 10. Pathology and Oncology

A 16-year-old boy presents with knee pain. Radiographs reveal a well-circumscribed lytic lesion in the distal femoral epiphysis with central calcifications. Histology shows mononuclear cells, osteoclast-like giant cells, and 'chicken-wire' calcification. What is the most appropriate initial treatment?

. Observation
. Radiation therapy
. Wide en bloc resection
. Intralesional curettage and bone grafting
. Neoadjuvant chemotherapy followed by excision

Correct Answer & Explanation

. Intralesional curettage and bone grafting


Explanation

The diagnosis is chondroblastoma, a benign but locally aggressive epiphyseal tumor characterized by 'chicken-wire' calcifications. The standard of care is aggressive intralesional curettage, high-speed burring, and bone grafting.

Question 6434

Topic: Bone Tumors

A 9-year-old girl presents with a limp, precocious puberty, and large irregular cafe-au-lait spots on her torso. Radiographs show a 'ground-glass' expansile lesion in her proximal femur with a 'shepherd's crook' deformity. What is the underlying pathophysiology of her bony lesions?

. Inhibiting mutation in the FGFR3 receptor
. Activating mutation in the GNAS1 gene affecting cAMP signaling
. Defect in the carbonic anhydrase II enzyme
. Mutation in the EXT1 gene affecting heparan sulfate
. Defective lysosomal storage of glycosaminoglycans

Correct Answer & Explanation

. Activating mutation in the GNAS1 gene affecting cAMP signaling


Explanation

McCune-Albright syndrome is characterized by polyostotic fibrous dysplasia, cafe-au-lait spots, and endocrinopathies. It is caused by a post-zygotic activating somatic mutation in the GNAS1 gene, resulting in continuous cAMP production.

Question 6435

Topic: 10. Pathology and Oncology

A 25-year-old male presents with a slowly enlarging, painful mass near the knee joint, but entirely extra-articular. MRI shows a soft tissue mass with focal calcifications. Biopsy shows a biphasic pattern of epithelial and spindle cells. Which specific genetic translocation confirms this diagnosis?

. t(11;22)(q24;q12)
. t(X;18)(p11;q11)
. t(12;16)(q13;p11)
. t(2;13)(q35;q14)
. t(9;22)(q22;q12)

Correct Answer & Explanation

. t(X;18)(p11;q11)


Explanation

Synovial sarcoma classically presents as a slow-growing calcified mass near a joint in young adults and frequently exhibits a biphasic histology. It is definitively identified by the t(X;18)(p11;q11) translocation forming the SYT-SSX fusion gene.

Question 6436

Topic: 10. Pathology and Oncology

A 12-year-old boy presents with progressive, severe mid-thigh pain and swelling. Radiographs reveal a poorly marginated, permeative lytic lesion in the femoral diaphysis with an 'onion-skin' periosteal reaction. Biopsy demonstrates uniform small round blue cells that stain strongly positive for CD99. Which of the following chromosomal translocations is most characteristic of this diagnosis?

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

Correct Answer & Explanation

. t(11;22)


Explanation

Ewing sarcoma typically presents as a diaphyseal permeative lesion with onion-skinning and CD99+ small round blue cells. The characteristic genetic abnormality is the t(11;22) translocation involving the EWSR1 and FLI1 genes.

Question 6437

Topic: 10. Pathology and Oncology

A 15-year-old boy presents with chronic right knee pain. Radiographs reveal a well-circumscribed, eccentrically located lytic lesion in the proximal tibial epiphysis with stippled calcifications. Histological examination of the curetted lesion shows mononuclear cells with grooved nuclei and areas of 'chicken-wire' pericellular calcification. What is the most likely diagnosis?

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

Correct Answer & Explanation

. Chondroblastoma


Explanation

Chondroblastoma is a rare, benign cartilage-forming tumor that classically arises in the epiphysis or apophysis of skeletally immature patients. Histology is distinguished by chondroblasts with grooved nuclei and a fine network of 'chicken-wire' calcifications.

Question 6438

Topic: Bone Tumors

A 16-year-old male complains of nocturnal anterior thigh pain that is completely relieved by ibuprofen. Imaging shows a 1 cm radiolucent nidus with intense surrounding reactive sclerosis in the medial femoral diaphysis. What is the preferred minimally invasive definitive treatment?

. En bloc resection with wide margins
. Radiofrequency ablation
. Observation with scheduled oral NSAIDs
. External beam radiation therapy
. Intralesional corticosteroid injection

Correct Answer & Explanation

. Radiofrequency ablation


Explanation

Osteoid osteomas typically present with night pain relieved by NSAIDs and demonstrate a characteristic radiolucent nidus smaller than 1.5 cm. CT-guided radiofrequency ablation (RFA) is the current standard of care for definitive, minimally invasive treatment.

Question 6439

Topic: 10. Pathology and Oncology

A 14-year-old girl is evaluated for right shoulder pain. Radiographs show an expansile, eccentric, lucent lesion in the proximal humeral metaphysis. MRI demonstrates multiple internal fluid-fluid levels. Biopsy confirms blood-filled cystic spaces without an endothelial lining. Which genetic translocation is highly characteristic of this primary lesion?

. t(11;22)
. t(16;17)
. t(9;22)
. t(2;13)
. t(12;16)

Correct Answer & Explanation

. t(16;17)


Explanation

Primary aneurysmal bone cysts (ABCs) are benign but locally aggressive neoplastic processes driven by a t(16;17) translocation that upregulates the USP6 oncogene. Imaging classically shows an expansile metaphyseal lesion with fluid-fluid levels on MRI.

Question 6440

Topic: 10. Pathology and Oncology

A 14-year-old boy presents with a painful mass in his left mid-thigh. Radiographs show a destructive diaphyseal lesion with an "onion-skin" periosteal reaction. Biopsy reveals sheets of small, round, blue cells. Which of the following cytogenetic abnormalities is most characteristically associated with this condition?

. t(11;22) involving EWSR1-FLI1
. t(X;18) involving SYT-SSX
. t(12;16) involving FUS-CHOP
. t(12;15) involving ETV6-NTRK3
. t(17;22) involving COL1A1-PDGFB

Correct Answer & Explanation

. t(11;22) involving EWSR1-FLI1


Explanation

Ewing sarcoma classically presents as a diaphyseal lesion with onion-skinning and small round blue cells. The pathognomonic translocation is t(11;22)(q24;q12), which creates the EWSR1-FLI1 fusion gene.