A 19-year-old woman presents with progressive bilateral hearing loss and tinnitus over 6 months. Vital signs: BP 118/76, HR 82, RR 16, Temp 37°C, SpO2 98%. MRI reveals bilateral cerebellopontine angle masses with T2 hyperintensity. Audiometry confirms sensorineural hearing loss. She denies headaches, vision changes, or family history of malignancy. Genetic testing shows a pathogenic variant in a tumor suppressor gene. Which gene is most likely mutated?
- A)APC
- B)MerlinGABARITO
- C)VHL
- D)PTEN
- E)Neurofibromin
Explicação
Merlin is correct. Neurofibromatosis type 2 is caused by mutation of the NF2 gene on chromosome 22, which encodes merlin, a tumor suppressor protein. Bilateral vestibular schwannomas causing hearing loss and tinnitus are the classic presentation. Ver explicação completa e trilha adaptativa →