阎海：追踪难以捉摸的脑癌“杀手”

goodboy

Mutations in CIC and FUBP1 Contribute to Human Oligodendroglioma % J- i, |0 x( }0 U  e# R, \: L

  ?& A) |" d/ o+ h! y; h8 V  k! p1 _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.
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少树突胶质细胞瘤(Oligodendroglioma)在成年人中第二大常见的恶性脑瘤，该脑瘤呈现出染色体1p和19q的特征性丢失。研究人员在对7个少树突胶质细胞瘤的外显子组测序过程中发现六个病例当中染色体19q的CIC基因(果蝇基因capicu的同源物)在体细胞中发生突变以及在2个病例当中染色体1p的FUBP1基因(编码远上游元件结合蛋白)在体细胞中发生突变。在对另外27个少树突胶质细胞瘤的研究当中也揭示出12个和3个以上的肿瘤分别发生CIC和FUBP1突变。这些结果表明这两种在少树突胶质细胞瘤的生物学和病理学当中发挥着关键性的作用。
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