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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Primary melanoma of the central nervous system


Other Names for this Disease

  • Primary CNS melanoma
  • Primary melanoma of the CNS
  • Primary meningeal melanoma
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Cause

Newline Maker

What causes primary melanoma of the central nervous system?

Although the exact cause of this condition is unknown, researchers have identified somatic mutations in the the GNAQ gene in 7 of 19 patients (37 percent) with primary malignant melanocytic tumors of the central nervous system. Somatic mutations are not inherited but occur during a person's lifetime. This mutation makes the Gnaq protein constantly active. The same mutation has been identified in approximately half of patients with intraocular melanoma.[1]
Last updated: 2/21/2014

References
  1. K├╝sters-Vandevelde HV1 et al. Activating mutations of the GNAQ gene: a frequent event in primary melanocytic neoplasms of the central nervous system. Acta Neuropathol. March 2010; 119(3):317-323. http://www.ncbi.nlm.nih.gov/pubmed?term=19936769.


Other Names for this Disease
  • Primary CNS melanoma
  • Primary melanoma of the CNS
  • Primary meningeal melanoma
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.