作者: M Labussiere , A Idbaih , X-W Wang , Y Marie , B Boisselier
DOI: 10.1212/WNL.0B013E3181E1CF3A
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摘要: Background: Recently, the gene encoding human cytosolic NADPH-dependent isocitrate dehydrogenase ( IDH1 ) was reported frequently mutated in gliomas. Rare mutations were also found sequence of mitochondrial isoform IDH2 . Methods: In a series 764 gliomas genome-wide characterized, we determined presence sequences both and genes by direct sequencing. Results: We that all tumors with complete 1p19q codeletion (n = 128) (118) or (10) gene. This 100% mutation rate contrasted strikingly other exhibiting either variable 1p 19q alterations 159, IDH1/IDH2 33%) no alteration 477, 32%). Our data confirm prognostic impact whatever grade considered: patients harboring have an improved median overall survival. Moreover, WHO II III gliomas, 3 groups significantly different outcomes identified according to their statuses. Tumors carrying had longer survival than nonmutated counterpart. Conclusions: exclusive association suggests new mechanism tumorigenesis. Perhaps is prerequisite for occurrence t(1;19) translocation, it required codeleted cells acquire tumor phenotype.