研究背景:少突膠質(zhì)細胞瘤是常見的惡性腦瘤之一,美國研究人員報告說,他們發(fā)現(xiàn)了兩個與少突膠質(zhì)細胞瘤相關的基因變異,這一成果或許有助于開發(fā)治療這種腫瘤的新方法。 醫(yī)學界多年來一直在尋找少突膠質(zhì)細胞瘤的主要致病基因變異,盡管已有研究確定了相關變異發(fā)生在人類1號和19號染色體,但未能鎖定元兇。在新研究中,杜克大學醫(yī)學中心和約翰斯•霍普金斯大學研究人員在這一問題上取得了進展。 關鍵技術:GWAS SNP分型 研究結(jié)果:剛開始進行7個少突膠質(zhì)細胞瘤樣本突變測序,6個都發(fā)現(xiàn)了CIC基因變異,2個檢測出FUBP1基因變異。研究人員進一步對27個樣本進行全基因組掃描后發(fā)現(xiàn),存在CIC基因變異的有12個,出現(xiàn)FUBP1基因變異的有3個。這兩個基因變異很少在其他腫瘤中出現(xiàn),這意味著它們很可能是少突膠質(zhì)細胞瘤特異基因。 研究意義:兩個與少突膠質(zhì)細胞瘤相關的基因變異,這一成果或許有助于開發(fā)治療這種腫瘤的新方法 參考文獻: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. |