研究背景：少突胶质细胞瘤是常见的恶性脑瘤之一，美国研究人员报告说，他们发现了两个与少突胶质细胞瘤相关的基因变异，这一成果或许有助于开发治疗这种肿瘤的新方法。

医学界多年来一直在寻找少突胶质细胞瘤的主要致病基因变异，尽管已有研究确定了相关变异发生在人类1号和19号染色体，但未能锁定元凶。在新研究中，杜克大学医学中心和约翰斯•霍普金斯大学研究人员在这一问题上取得了进展。

关键技术：GWAS SNP分型

研究结果：刚开始进行7个少突胶质细胞瘤样本突变测序，6个都发现了CIC基因变异，2个检测出FUBP1基因变异。研究人员进一步对27个样本进行全基因组扫描后发现，存在CIC基因变异的有12个，出现FUBP1基因变异的有3个。这两个基因变异很少在其他肿瘤中出现，这意味着它们很可能是少突胶质细胞瘤特异基因。

研究意义：两个与少突胶质细胞瘤相关的基因变异，这一成果或许有助于开发治疗这种肿瘤的新方法

参考文献：Bettegowda, Chetan; Agrawal,et al . Mutations in CIC and FUBP1 Contribute to Human Oligodendroglioma. Science. doi:10.1126/science.1210557

Abstract：Oligodendrogliomas are the second most common malignant brain tumor in adults and exhibit characteristic losses of chromosomes 1p and 19q. To identify the molecular genetic basis for this alteration, we performed exomic sequencing of seven tumors. Among other changes, we found that the CIC gene (homolog of the Drosophila gene capicua) on chromosome 19q was somatically mutated in six cases and that the FUBP1 gene [encoding far upstream element (FUSE) binding protein] on chromosome 1p was somatically mutated in two tumors. Examination of 27 additional oligodendrogliomas revealed 12 and 3 more tumors with mutations of CIC and FUBP1, respectively, 58% of which were predicted to result in truncations of the encoded proteins. These results suggest a critical role for these genes in the biology and pathology of oligodendrocytes.