Primary pineal malignant melanoma with B-Raf V600E mutation: a case report and brief review of the literature

Acta Neurochir (Wien). 2015 Jul;157(7):1267-70. doi: 10.1007/s00701-015-2427-3. Epub 2015 May 15.

Abstract

Primary pineal melanoma is exceedingly rare, and sufficient treatment options have not been established. Here we describe a 57-year-old male patient who presented with short-term memory disturbance and ataxia. Magnetic resonance imaging of the brain showed a tumor mass in the pineal gland. Biopsy revealed a malignant melanocytic tumor. No primary malignant melanoma was known, and extensive imaging studies including PET-CT excluded other sites affected by a malignant melanoma. The demonstration of the BRAF V600E mutation in the pineal tumor made the patient eligible for intrathecal treatment with vemurafenib. Unfortunately, the patient died 26 days after surgery due to tumor hemorrhage. This is the first report of V600E in primary pineal melanoma, suggesting that a fraction of these rare tumors might additionally benefit from vemurafenib treatment.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Brain Neoplasms / genetics
  • Brain Neoplasms / pathology*
  • Humans
  • Male
  • Melanoma / genetics
  • Melanoma / pathology*
  • Middle Aged
  • Pineal Gland / pathology*
  • Pinealoma / genetics
  • Pinealoma / pathology*
  • Proto-Oncogene Proteins B-raf / genetics*

Substances

  • Proto-Oncogene Proteins B-raf