10. Pathology and Oncology MCQs

A biopsy from a localized lesion in a 6-year-old child with Trevor disease is analyzed. Which of the following histological descriptions best matches the expected findings?

Which of the following is a key distinguishing feature of Multiple Hereditary Exostoses (MHE) compared to Dysplasia Epiphysealis Hemimelica (DEH)?

A 3-year-old child presents with an asymmetrical mass on the medial aspect of the knee and early signs of deformity.

Which of the following best describes the fundamental pathogenesis of this condition?

A 9-year-old male undergoes excision of a large Dysplasia Epiphysealis Hemimelica (Trevor disease) lesion on the medial aspect of his distal femoral epiphysis due to a severe mechanical block to knee flexion. The surgeon aggressively resects the mass deep into the epiphyseal base. Which of the following is the most significant long-term risk of this aggressive surgical approach?

A 14-year-old male is diagnosed with high-grade conventional osteosarcoma of the distal femur. What is the standard first-line neoadjuvant chemotherapy regimen?

A 16-year-old male with a history of bilateral retinoblastoma develops a conventional osteosarcoma of the distal femur. This patient is most likely to harbor a germline mutation in which of the following genes?

A 45-year-old female presents with persistent, unprovoked deep shoulder pain. Radiographs reveal a stippled calcific lesion in the proximal humerus with endosteal scalloping affecting 80% of the cortical thickness. What is the most likely diagnosis?

Which chromosomal translocation is the diagnostic hallmark of Ewing sarcoma?

A 35-year-old male with NF1 presents with a rapidly enlarging, painful mass in his left thigh that originated from a long-standing plexiform neurofibroma. What is the most likely diagnosis?

Multiple Hereditary Exostoses (MHE) is inherited in an autosomal dominant pattern. Mutations in EXT1 and EXT2 genes disrupt the synthesis of which of the following?

A 22-year-old male presents with chronic back pain that is poorly relieved by NSAIDs. Imaging reveals a 2.5 cm lytic lesion with central ossification in the posterior elements of L4. What is the most likely diagnosis?

A 65-year-old male presents with generalized bone pain and a pathological fracture of the proximal humerus. Radiographs show multiple punched-out lytic lesions, but a technetium-99m bone scan is negative. What is the most appropriate initial diagnostic laboratory test?

A 55-year-old male with a history of renal cell carcinoma presents with a painful, impending pathological fracture of the proximal femur due to a large lytic metastasis. What is the most critical pre-operative intervention prior to prophylactic stabilization?

A 28-year-old male presents with a slow-growing, painful mass near his knee joint. Radiographs reveal a soft tissue mass with stippled calcifications. Biopsy demonstrates a biphasic pattern of spindle and epithelial cells. What is the characteristic genetic mutation?

During surgical resection of an established congenital pseudarthrosis of the tibia (CPT) in a patient with NF1, the thick, collar-like tissue surrounding the pseudarthrosis site is excised. What is the primary histological characteristic of this excised tissue?

A 28-year-old female with a known history of Neurofibromatosis Type 1 (NF1) and multiple plexiform neurofibromas presents with rapid enlargement and severe pain in a pre-existing thigh mass. Which of the following imaging modalities is considered the most sensitive for detecting malignant transformation in this patient?

A patient diagnosed with Ewing sarcoma undergoes cytogenetic testing. Which chromosomal translocation and resulting fusion gene is most classically associated with this malignancy?

A 13-year-old girl presents with pain in her left shoulder. Radiographs demonstrate a purely lytic, well-circumscribed lesion strictly localized to the proximal humeral epiphysis. She has open physes. What is the most likely diagnosis?