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BRAF G596R mutation in a slow-progressing melanoma

Authors Gao L, Ma D

Received 11 May 2015

Accepted for publication 15 July 2015

Published 17 August 2015 Volume 2015:7 Pages 63—66


Checked for plagiarism Yes

Review by Single-blind

Peer reviewers approved by Dr Xuehui Li

Peer reviewer comments 4

Editor who approved publication: Dr Paul Zhang

Ling Gao, Deqin Ma

Department of Pathology, University of Iowa Hospitals and Clinics, Iowa City, IA, USA

Abstract: More than 50% of melanomas harbor a single V600E point mutation in the kinase domain of the BRAF gene, resulting in constitutive activation of the MAP kinase pathway. The kinase loop in BRAF begins with Asp-Phe-Gly (DFG; codons 594–596). Mutations in this region are rare, and the effect on tumorigenesis or progression is unknown. We present a slow-progressing metastatic melanoma with a p.G596R (c.1786G>C) mutation in an 84-year-old female. This mutation has only been reported in two cases of melanoma in the current literature, with no clinical information available. Mutations in the DFG motif are considered low-activating through indirect binding and allosteric activation of the CRAF protein. Our patient has carried a clinical diagnosis of melanoma for over 25 years, suggesting that the G596R mutation may be associated with her indolent clinical course. It is unknown whether patients carrying this mutation will benefit from vemurafenib therapy. Our patient declined medical treatment.

Keywords: melanoma, BRAF, V600E, G596R

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