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与皮肤黑色素瘤相反,葡萄膜黑色素瘤中不存在BRAF基因突变。

Absence of BRAF gene mutations in uveal melanomas in contrast to cutaneous melanomas.

作者信息

Edmunds S C, Cree I A, Dí Nícolantonío F, Hungerford J L, Hurren J S, Kelsell D P

机构信息

Centre for Cutaneous Research, Barts and the London School of Medicine and Dentistry, Queen Mary, University of London, 2 Newark Street, Whitechapel E1 2AT, UK.

出版信息

Br J Cancer. 2003 May 6;88(9):1403-5. doi: 10.1038/sj.bjc.6600919.

Abstract

The recent discovery of activating mutations in the BRAF gene in many cutaneous melanomas led us to screen the genomic sequence of BRAF exons 11 and 15 in a series of 48 intraocular (uveal) melanomas, together with control samples from three cutaneous melanomas and the SK-Mel-28 cell line, which has a BRAF mutation. The same mutation was detected in two-thirds of our cutaneous melanoma samples, but was not present in any uveal melanomas. This finding further underlines the distinction between uveal and cutaneous melanomas, and suggests that BRAF inhibitors are unlikely to benefit patients with uveal melanoma.

摘要

最近在许多皮肤黑色素瘤中发现了BRAF基因的激活突变,这促使我们对48例眼内(葡萄膜)黑色素瘤样本以及来自3例皮肤黑色素瘤的对照样本和具有BRAF突变的SK-Mel-28细胞系进行BRAF基因第11和15外显子的基因组序列筛查。在三分之二的皮肤黑色素瘤样本中检测到了相同的突变,但在任何葡萄膜黑色素瘤样本中均未发现。这一发现进一步强调了葡萄膜黑色素瘤和皮肤黑色素瘤之间的区别,并表明BRAF抑制剂不太可能使葡萄膜黑色素瘤患者受益。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1894/2741050/9d2532f7898b/88-6600919f1.jpg

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