Korean J Med.  2011 Apr;80(4):477-481.

Case of Breast Cancer in a Neurofibromatosis 2 Patient

Affiliations
  • 1Department of Internal Medicine, Korea Cancer Center Hospital, Korea Institute of Radiological and Medical Sciences, Seoul, Korea. hyejin@kcch.re.kr
  • 2Department of Pathology, Korea Cancer Center Hospital, Korea Institute of Radiological and Medical Sciences, Seoul, Korea.
  • 3Department of Radiology, Korea Cancer Center Hospital, Korea Institute of Radiological and Medical Sciences, Seoul, Korea.

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.

Keyword

Neurofibromatosis 2; Breast neoplasms

MeSH Terms

Brain
Breast
Breast Neoplasms
Ear
Female
Fractures, Compression
Genes, Tumor Suppressor
Humans
Lung
Middle Aged
Neoplasm Metastasis
Neurilemmoma
Neurofibromatoses
Neurofibromatosis 2
Neutropenia
Pneumonia
Stomach
Stress, Psychological
Vestibular Nerve
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