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存在罕见BRAF V600M突变时治疗恶性黑色素瘤:病例报告及文献综述

Treating malignant melanoma when a rare BRAF V600M mutation is present: case report and literature review.

作者信息

Popescu Andrei, Haidar Andrei, Anghel Rodica Maricela

机构信息

Medical Oncology Department, "Colentina" Clinical Hospital, Bucharest, Romania.

"Carol Davila" University of Medicine and Pharmacy, Bucharest, Romania.

出版信息

Rom J Intern Med. 2018 Jun 1;56(2):122-126. doi: 10.1515/rjim-2017-0044.

Abstract

Recent years have brought major advances in the treatment of malignant melanoma. One such an advance is the treatment with BRAF tyrosine-kinase inhibitors in metastatic malignant melanomas that harbor mutations in the BRAF gene. The trials that have been performed in this setting have demonstrated superior response rates and increased overall survival, however, they mostly included patients with melanomas carrying the more common V600E and V600K mutations, not being able to assess the benefit of these treatments in situations where more rare mutations of the BRAF gene are present. We present the evolution of a patient with malignant melanoma with a rare V600M mutation in the BRAF gene, that was eventually treated with vemurafenib. Also we present a brief review of the major phase III trials that showed benefit with tyrosine-kinase inhibitors in BRAF mutated melanoma, with respect to the BRAF mutations included.

摘要

近年来,恶性黑色素瘤的治疗取得了重大进展。其中一项进展是在携带BRAF基因变异的转移性恶性黑色素瘤中使用BRAF酪氨酸激酶抑制剂进行治疗。在此背景下开展的试验已证明有更高的缓解率和更长的总生存期,然而,这些试验大多纳入了携带更常见的V600E和V600K突变的黑色素瘤患者,无法评估在存在BRAF基因更罕见突变的情况下这些治疗的益处。我们展示了一名患有BRAF基因罕见V600M突变的恶性黑色素瘤患者的病情发展过程,该患者最终接受了维莫非尼治疗。此外,我们简要回顾了主要的III期试验,这些试验显示酪氨酸激酶抑制剂对BRAF突变的黑色素瘤有益,并介绍了其中包含的BRAF突变情况。

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