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(guān)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(xué)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(guān)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(xué)醫(yī)學(xué)中心和約翰斯·霍普金斯大學(xué)研究人員在這一問題上取得了進展,。
他們發(fā)現(xiàn)，位于19號染色體上的CIC基因及1號染色體上的FUBP1基因發(fā)生變異可能與少突膠質(zhì)細胞瘤的形成有關(guān),。在最初的7個少突膠質(zhì)細胞瘤樣本中,，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,。研究人員說,，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,。
這項研究成果5日發(fā)表在新一期美國《科學(xué)》雜志上,。（生物谷Bioon.com）
doi:10.1126/science.1210557
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Mutations in CIC and FUBP1 Contribute to Human Oligodendroglioma
Bettegowda, Chetan; Agrawal, Nishant; Jiao, Yuchen; Sausen, Mark; Wood, Laura D.; Hruban, Ralph H.; Rodriguez, Fausto J.; Cahill, Daniel P.; McLendon, Roger; Riggins, Gregory; Velculescu, Victor E.; Oba-Shinjo, Sueli Mieko; Marie, Suely Kazue Nagahashi; Vogelstein, Bert; Bigner, Darell; Yan, Hai; Papadopoulos, Nickolas; Kinzler, Kenneth W.
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.
