黑色素瘤肿瘤的突变分析：多种体细胞突变及其临床意义。

Mutational profiling in melanocytic tumors: multiple somatic mutations and clinical implications.

机构信息

Unit of Dermatology, Department of Internal Medicine and Medical Specialties, 'Sapienza' University of Rome, Rome, Italy.

出版信息

Oncology. 2014;86(2):104-8. doi: 10.1159/000356878. Epub 2014 Jan 18.

DOI:10.1159/000356878

PMID:24457427

Abstract

In this study, we analyzed multiple somatic mutations in 10 genes relevant in melanoma tumorigenesis and targeted therapies. Overall, 45% of the tumors showed mutations and, in particular, 33% had multiple mutations. Based on our results, we conclude that the assessment of mutation status of multiple genes, including CDKN2A, could provide a genetic profile that can be useful as a prognostic and therapeutic marker in melanocytic tumors.

摘要

在这项研究中，我们分析了与黑色素瘤肿瘤发生和靶向治疗相关的 10 个基因中的多个体突变。总体而言，45%的肿瘤显示出突变，特别是 33%有多发性突变。基于我们的结果，我们得出结论，评估多个基因（包括 CDKN2A）的突变状态可以提供遗传谱，作为黑色素瘤肿瘤的预后和治疗标志物可能是有用的。