[BRAF（L597Q）突变型黑色素瘤对曲美替尼的反应：超越BRAF（V600）突变的靶向黑色素瘤治疗]

[Response of BRAF(L597Q)-mutant melanoma to trametinib : Targeted melanoma therapy beyond BRAF(V600) mutations].

作者信息

Haase O, Angün O, Grätz V, Lüttmann N, Neumann A, Zillikens D, Terheyden P

机构信息

Klinik für Dermatologie, Allergologie und Venerologie, Universität zu Lübeck, Ratzeburger Allee 160, 23538, Lübeck, Deutschland.

Institut für Neuroradiologie, Universität zu Lübeck, Lübeck, Deutschland.

出版信息

Hautarzt. 2016 Aug;67(8):648-52. doi: 10.1007/s00105-016-3785-3.

DOI:10.1007/s00105-016-3785-3

PMID:27146499

Abstract

Approximately 7 % of melanomas have a BRAF mutation beyond codon 600. These mutations can be BRAF activating without being addressable by an approved BRAF inhibitor. The case of a patient with fulminant metastatic melanoma and a BRAF(L597Q) mutation is presented. It is demonstrated that the tumor shows an excellent response to the MEK inhibitor trametinib. This is an example for possible targeted therapy in a non-V600-mutated melanoma resulting in a 17-month overall survival.

摘要

大约7%的黑色素瘤存在密码子600以外的BRAF突变。这些突变可能是BRAF激活突变，无法被已获批的BRAF抑制剂所作用。本文介绍了一名患有暴发性转移性黑色素瘤且存在BRAF（L597Q）突变的患者病例。结果表明，该肿瘤对MEK抑制剂曲美替尼表现出极佳的反应。这是一个针对非V600突变型黑色素瘤进行可能的靶向治疗并实现17个月总生存期的实例。