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黑色素瘤中的驱动基因突变:从基础到临床研究中得到的经验教训。

Driver mutations in melanoma: lessons learned from bench-to-bedside studies.

机构信息

The Cancer Institute of New Jersey, 195 Little Albany Street Rm 5543, New Brunswick, NJ 08903, USA.

出版信息

Curr Oncol Rep. 2012 Oct;14(5):449-57. doi: 10.1007/s11912-012-0249-5.

Abstract

The identification of somatic driver mutations in human samples has allowed for the development of a molecular classification for melanoma. Recent breakthroughs in the treatment of metastatic melanoma have arisen as a result of these significant new insights into the molecular biology of the disease, particularly the development of inhibitors of activating BRAF(V600E) mutations. In this article the roles of several mutations known to be involved in the malignant transformation of melanocytes are reviewed including BRAF, PTEN, NRAS, ckit, and p16 as well as some of the emerging mutations in cutaneous and uveal melanoma. The bench to bedside collaborations that resulted in these discoveries are summarized, and potential therapeutic strategies to target driver mutations in specific patient subsets are discussed.

摘要

在人类样本中鉴定体细胞驱动突变,使得黑色素瘤的分子分类成为可能。由于对疾病分子生物学的这些重大新认识,特别是激活 BRAF(V600E)突变抑制剂的开发,转移性黑色素瘤的治疗最近取得了突破。本文回顾了几种已知参与黑素细胞恶性转化的突变的作用,包括 BRAF、PTEN、NRAS、ckit 和 p16,以及皮肤和葡萄膜黑色素瘤中的一些新出现的突变。总结了促成这些发现的从实验室到临床的合作,并讨论了针对特定患者亚群的驱动突变的潜在治疗策略。

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