Bone Tumours · NEET PG Preparation Orthopaedics

An 18-year-old male presents with pain in the proximal right humerus and low-grade fever. Radiography shows a permeative lytic lesion in the diaphysi…

Practice question from Bone Tumours (NEET PG Preparation Orthopaedics), with the correct answer and a step-by-step solution.

medium · MCQ · Q-EBFA8F

An 18-year-old male presents with pain in the proximal right humerus and low-grade fever. Radiography shows a permeative lytic lesion in the diaphysis with an 'onion-skin' type of periosteal reaction. Biopsy reveals small round blue cells that are glycogen-positive and PAS-positive. Which of the following chromosomal translocations is most commonly associated with this tumor?

  1. A.t(11;22)(q24;q12)Correct answer
  2. B.t(X;18)(p11.2;q11.2)
  3. C.t(9;22)(q34;q11)
  4. D.t(12;16)(q13;p11)

Solution

The patient has Ewing sarcoma, characterized by small round blue cells, diaphyseal location, onion-skin periosteal reaction, and glycogen positivity (PAS positive). It is most commonly associated with the t(11;22) translocation, resulting in the EWS-FLI1 fusion gene.

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