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患者体内黑色素瘤BRAFV600E突变状态的争议

Controversies in Intrapatient Melanoma BRAFV600E Mutation Status.

作者信息

Riveiro-Falkenbach Erica, Santos-Briz Angel, Ríos-Martín Juan J, Rodríguez-Peralto José L

机构信息

*Department of Pathology, Hospital Universitario 12 de Octubre, Instituto i+12, Medical School, Universidad Complutense, Madrid, Spain; †Department of Pathology, Hospital Universitario de Salamanca, Instituto de Investigación Biomédica de Salamanca (IBSAL), Salamanca, Spain; and ‡Department of Pathology, Hospital Universitario Virgen Macarena, Sevilla, Spain.

出版信息

Am J Dermatopathol. 2017 Apr;39(4):291-295. doi: 10.1097/DAD.0000000000000710.

Abstract

Therapies targeting the BRAF oncogene have improved the overall and disease-free survival of patients with advanced melanomas. An unresolved issue in clinical practice is the existence (or not) of BRAF-mutated and BRAF-nonmutated tumors in individual patients (intrapatient BRAF mutation heterogeneity), which may serve as a mechanism of resistance to BRAF inhibitors or lead to diagnostic problems. Different research groups have reported differing results after analyzing the BRAF mutation statuses of multiple melanoma tumors. Herein, we present a brief revision of the literature on this controversial topic and propose a theory to justify the divergence of the results found in the literature.

摘要

针对BRAF致癌基因的疗法已改善了晚期黑色素瘤患者的总生存率和无病生存率。临床实践中一个尚未解决的问题是个体患者中是否存在BRAF突变和BRAF未突变肿瘤(患者内BRAF突变异质性),这可能是对BRAF抑制剂产生耐药性的一种机制,或者导致诊断问题。不同的研究小组在分析多个黑色素瘤肿瘤的BRAF突变状态后报告了不同的结果。在此,我们简要回顾了关于这个有争议话题的文献,并提出一种理论来解释文献中发现的结果差异。

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