GNAQ mutation in a patient with metastatic mucosal melanoma.

Abstract:

BACKGROUND:Mucosal melanomas represent about 1% of all melanoma cases and classically have a worse prognosis than cutaneous melanomas. Due to the rarity of mucosal melanomas, only limited clinical studies with metastatic mucosal melanoma are available. Mucosal melanomas most commonly contain mutations in the gene CKIT, and treatments have been investigated using targeted therapy for this gene. Mutations in mucosal melanoma are less common than in cutaneous or uveal melanomas and occur in descending order of frequency as: CKIT (20%), NRAS (5%) or BRAF (3%). Mutations in G-alpha proteins, which are associated with activation of the mitogen-activated protein kinase pathway, have not been reported in mucosal melanomas. These G-alpha protein mutations occur in the genes GNAQ and GNA11 and are seen at a high frequency in uveal melanomas, those melanomas that begin in the eye. CASE PRESENTATION:A 59-year old Caucasian male was diagnosed with a mucosal melanoma after evaluation for what was thought to be a hemorrhoid. Molecular analysis of the tumor revealed a GNAQ mutation. Ophthalmologic exam did not disclose a uveal melanoma. CONCLUSION:Here we report, to our knowledge, the first known case of GNAQ mutation in a patient with metastatic mucosal melanoma.

journal_name

BMC Cancer

journal_title

BMC cancer

authors

Kim CY,Kim DW,Kim K,Curry J,Torres-Cabala C,Patel S

doi

10.1186/1471-2407-14-516

subject

Has Abstract

pub_date

2014-07-16 00:00:00

pages

516

issn

1471-2407

pii

1471-2407-14-516

journal_volume

14

pub_type

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