A 30-year-old woman presents with progressive bilateral hearing loss and multiple intracranial and spinal tumors. MRI shows bilateral vestibular schwannomas, multiple meningiomas, and an intramedullary spinal cord tumor with perivascular pseudorosettes and ependymal rosettes. Which chromosomal abnormality is responsible for this condition?

• A Chromosome 22q12 deletion ✓
• B Chromosome 17q11.2 deletion
• C Chromosome 9q34 deletion
• D Chromosome 16p13.3 deletion

Explanation

Neurofibromatosis type 2 (NF2) is characterized by bilateral vestibular schwannomas, multiple meningiomas, and spinal ependymomas. It is caused by mutations in the NF2 gene on chromosome 22q12 encoding the protein merlin. The intramedullary spinal tumor with perivascular pseudorosettes and ependymal rosettes is an ependymoma, commonly seen in NF2. Chromosome 17q11.2 deletion causes NF1. Chromosome 9q34 and 16p13.3 deletions are associated with tuberous sclerosis (TSC1 and TSC2).

Reference: Robbins and Cotran Pathologic Basis of Disease, 10th ed.

High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP

Written and medically reviewed by the StethoPrep medical team.