Rare SF3B1 R625 mutations in cutaneous melanoma.
Rare SF3B1 R625 mutations in cutaneous melanoma.
复制标题
DOI：
10.1097/cmr.0000000000000071
复制
发表时间：
2014-08
影响因子：
2.2
通讯作者：
Halaban R
中科院分区：
文献类型：
--
作者：
Kong Y;Krauthammer M;Halaban R
RNA剪接是最近才被发现是各种癌症的重要靶标的细胞过程。在与癌症有关的剪接体基因中，SF3B1 突变最频繁。在葡萄膜黑色素瘤中发现了密码子 625 的反复突变，但在皮肤黑色素瘤中尚未发现这种突变。我们使用全外显子组测序来探索 295 个黑色素瘤样本的突变情况，其中 231 个是皮肤黑色素瘤。在这些皮肤黑色素瘤样本中，我们发现了 2 个样本的 SF3B1 基因存在 R625 突变。结果通过桑格测序进行验证。我们得出的结论是，SF3B1 R625 突变确实发生在皮肤黑色素瘤中，尽管频率较低（~1%）。
RNA splicing is the cellular process that has only recently been found to be an important target for various cancers. Among the spliceosome genes that are involved in cancers, SF3B1 is most frequently mutated. Recurrent mutation in codon 625 has been found in uveal melanoma, but this mutation has not been identified in cutaneous melanoma. We used whole-exome sequencing to explore the mutational landscape of 295 melanoma samples, 231 of which are cutaneous melanoma. Out of these cutaneous melanoma samples, we found 2 samples with R625 mutation in SF3B1 gene. The results were validated by Sanger sequencing. We conclude that SF3B1 R625 mutation does occur in cutaneous melanoma, although with a low frequency (~1%).