Neoplasia · NEET PG Preparation Pathology
A 45-year-old woman presents with multiple cutaneous tumors, bilateral hearing loss due to vestibular schwannomas, and multiple meningiomas. Genetic…
Practice question from Neoplasia (NEET PG Preparation Pathology), with the correct answer and a step-by-step solution.
hard · MCQ · Q-BEAB8F
A 45-year-old woman presents with multiple cutaneous tumors, bilateral hearing loss due to vestibular schwannomas, and multiple meningiomas. Genetic testing reveals a germline mutation in the NF2 gene on chromosome 22q. The product of this gene, merlin, normally functions as which of the following?
- A.A receptor tyrosine kinase
- B.A cytoplasmic GTPase-activating protein
- C.A cytoskeletal-associated tumor suppressor protein connecting membrane proteins to actin filamentsCorrect answer
- D.A DNA mismatch repair enzyme
Solution
Neurofibromin 2 (NF2) encodes merlin (schwannomin), a cytoskeletal-associated protein that acts as a tumor suppressor by linking transmembrane proteins to actin cytoskeleton and inhibiting various growth factor receptor signaling pathways. Mutations lead to Neurofibromatosis type 2.
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