痣中BRAF突变的高频率。

High frequency of BRAF mutations in nevi.

作者信息

Pollock Pamela M, Harper Ursula L, Hansen Katherine S, Yudt Laura M, Stark Mitchell, Robbins Christiane M, Moses Tracy Y, Hostetter Galen, Wagner Urs, Kakareka John, Salem Ghadi, Pohida Tom, Heenan Peter, Duray Paul, Kallioniemi Olli, Hayward Nicholas K, Trent Jeffrey M, Meltzer Paul S

机构信息

Cancer Genetics Branch, National Human Genome Research Institute, National Institutes of Health, 50 South Drive, Bethesda, Maryland 20892, USA.

出版信息

Nat Genet. 2003 Jan;33(1):19-20. doi: 10.1038/ng1054. Epub 2002 Nov 25.

DOI:10.1038/ng1054

PMID:12447372

Abstract

To evaluate the timing of mutations in BRAF (v-raf murine sarcoma viral oncogene homolog B1) during melanocytic neoplasia, we carried out mutation analysis on microdissected melanoma and nevi samples. We observed mutations resulting in the V599E amino-acid substitution in 41 of 60 (68%) melanoma metastases, 4 of 5 (80%) primary melanomas and, unexpectedly, in 63 of 77 (82%) nevi. These data suggest that mutational activation of the RAS/RAF/MAPK pathway in nevi is a critical step in the initiation of melanocytic neoplasia but alone is insufficient for melanoma tumorigenesis.

摘要

为了评估黑素细胞肿瘤形成过程中BRAF（v-raf鼠肉瘤病毒癌基因同源物B1）突变的时机，我们对显微切割的黑色素瘤和痣样本进行了突变分析。我们在60个黑色素瘤转移灶中的41个（68%）、5个原发性黑色素瘤中的4个（80%）以及出乎意料地在77个痣中的63个（82%）中观察到导致V599E氨基酸替代的突变。这些数据表明，痣中RAS/RAF/MAPK通路的突变激活是黑素细胞肿瘤形成起始的关键步骤，但单独这一步骤不足以引发黑色素瘤的肿瘤发生。