Analysis of BRAF and N-RAS mutations in metastatic melanoma tissues.
Analysis of BRAF and N-RAS mutations in metastatic melanoma tissues.
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发表时间：
2003-07
期刊：
影响因子：
11.2
通讯作者：
Alexis Gorden;I. Osman;W. Gai;D. He;Wei-qing Huang;A. Davidson;A. Houghton;K. Busam;D. Polsky
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作者：
Alexis Gorden;I. Osman;W. Gai;D. He;Wei-qing Huang;A. Davidson;A. Houghton;K. Busam;D. Polsky
我们在77例转移性黑色素瘤病例和11个黑色素瘤细胞系中检测了BRAF外显子11和15以及N-RAS外显子2和3的突变。在不同的转移部位观察到的突变率的显着差异无法检测到。在77个组织中的31个（40%）和11个细胞系中的5个（45%）中观察到最常见的突变，BRAF外显子15中的V599 E氨基酸取代。在两种情况下观察到编码V599 R和V599 K氨基酸变化的串联碱基对替换。关于黑色素瘤的新发现包括在BRAF外显子11中具有2个碱基对取代的细胞系和在BRAF外显子11和N-RAS外显子3中均含有突变的病例。我们的数据显示，BRAF突变在黑色素瘤转移中很常见，无论其部位如何，突变包括外显子11和15，并表明抗RAS/RAF策略可能对转移性黑色素瘤患者有效。
We examined mutations in BRAF exons 11 and 15 and N-RAS exons 2 and 3, in 77 metastatic melanoma cases and 11 melanoma cell lines. Significant differences in the mutation rates observed at different metastatic sites could not be detected. The most frequent mutation, the V599E amino acid substitution in BRAF exon 15, was observed in 31 of 77 (40%) tissues and 5 of 11 (45%) cell lines. Tandem base-pair substitutions encoding V599R and V599K amino acid changes were observed in two cases. Novel findings with respect to melanoma include a cell line possessing a 2 base-pair substitution in BRAF exon 11 and a case harboring mutations in both BRAF exon 11 and N-RAS exon 3. Our data show that BRAF mutation is common in melanoma metastases, regardless of their site, that mutations include both exons 11 and 15, and suggest that anti-RAS/RAF strategies may be effective in metastatic melanoma patients.