皮肤黑色素瘤中罕见的SF3B1 R625突变。
Rare SF3B1 R625 mutations in cutaneous melanoma.
作者信息
Kong Yong, Krauthammer Michael, Halaban Ruth
机构信息
aDepartment of Molecular Biophysics and Biochemistry bW.M. Keck Foundation Biotechnology Resource Laboratory cDepartment of Pathology dDepartment of Dermatology, Yale University, School of Medicine, New Haven, Connecticut, USA.
出版信息
Melanoma Res. 2014 Aug;24(4):332-4. doi: 10.1097/CMR.0000000000000071.
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. Among these cutaneous melanoma samples, we found two 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%).
RNA剪接是一种细胞过程，直到最近才被发现是各种癌症的重要靶点。在参与癌症的剪接体基因中，SF3B1最常发生突变。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图谱，其中231个是皮肤黑色素瘤。在这些皮肤黑色素瘤样本中，我们发现两个样本的SF3B1基因存在R625突变。结果通过桑格测序得到验证。我们得出结论，SF3B1 R625突变确实会在皮肤黑色素瘤中发生，尽管频率较低（约1%）。
Zotero 插件