Spendlove Hayley E, Damato Bertil E, Humphreys Jane, Barker Karen T, Hiscott Paul S, Houlston Richard S
Section of Cancer Genetics, Institute of Cancer Research, Sutton SM2 5NG, UK.
Melanoma Res. 2004 Dec;14(6):449-52. doi: 10.1097/00008390-200412000-00003.
Activating mutations in exon 15 of BRAF have been detected in a high proportion of cutaneous melanomas. To determine whether such mutations are a feature of conjunctival or uveal melanomas, we screened DNA from these tumours. Twenty-one conjunctival and 88 uveal tumours were included in the study. Mutation analysis of BRAF exons 11 and 15 was undertaken using a combination of conformationally sensitive gel electrophoresis and direct sequencing. Mutations in exon 15 were detected in three of the conjunctival tumours (two V599E and one E585 K). None of the uveal tumours possessed a BRAF mutation in either exon 15 or 11. We conclude that uveal melanomas arise independently of oncogenic BRAF mutations, but the development of a proportion of conjunctival tumours involves mutation of this gene.
在大部分皮肤黑色素瘤中已检测到BRAF基因第15外显子的激活突变。为了确定此类突变是否为结膜或葡萄膜黑色素瘤的特征,我们对这些肿瘤的DNA进行了筛查。该研究纳入了21例结膜肿瘤和88例葡萄膜肿瘤。采用构象敏感凝胶电泳和直接测序相结合的方法对BRAF基因第11和15外显子进行突变分析。在3例结膜肿瘤中检测到第15外显子的突变(2例V599E和1例E585K)。葡萄膜肿瘤中无一例在第15或11外显子存在BRAF突变。我们得出结论,葡萄膜黑色素瘤的发生独立于致癌性BRAF突变,但一部分结膜肿瘤的发生涉及该基因的突变。