Case of Breast Cancer in a Neurofibromatosis 2 Patient / 대한내과학회지

ABSTRACT

Neurofibromatosis 2 is a multiple neoplasia syndrome that is caused by mutations in the NF2 tumor suppressor gene on chromosome 22q12. Bilateral vestibular nerve schwannomas are the distinctive feature of neurofibromatosis 2. There have been no reported cases of breast cancer in patients with neurofibromatosis 2. We recently encountered a case of breast cancer in a 46-year-old woman with neurofibromatosis 2. She had had a palpable right beast mass for the previous year andtinnitus in her left ear for the previous 6 months. She was diagnosed with breast cancer (invasive ductal carcinoma) with metastasis to the lungs, bones and stomach. MRI of the brain revealed nodules in both internal auditory canals, indicating that she was suffering from neurofibromatosis 2. After radiation therapy for compression fractures in T8 and L1, and one cycle of chemotherapy, the patient died of febrile neutropenia and pneumonia.