IDH mutations: genotype-phenotype correlation and prognostic impact.
IDH mutations: genotype-phenotype correlation and prognostic impact.
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DOI：
10.1155/2014/540236
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发表时间：
2014
影响因子：
--
通讯作者：
Labussière M
中科院分区：
文献类型：
--
作者：
Wang XW;Ciccarino P;Rossetto M;Boisselier B;Marie Y;Desestret V;Gleize V;Mokhtari K;Sanson M;Labussière M
IDH 1/2突变是在胶质瘤中发现的最常见的基因组改变，影响40%的这些肿瘤，并且是胶质瘤发生中最早发生的改变之一。我们研究了一系列1305例胶质瘤，发现IDH突变在1 p19 q共缺失肿瘤中几乎是恒定的。我们发现IDH 1 R132 H、IDH 1 nonR 132 H和IDH 2突变的分布在星形细胞肿瘤、混合性肿瘤和少突胶质细胞肿瘤之间存在差异，IDH 2突变在少突胶质细胞表型中的表达率过高，IDH 1 nonR 132 H在星形细胞肿瘤中的表达率过高。我们根据1 p19 q和IDH突变的共缺失将II级和III级胶质瘤分层，以定义三个不同的预后亚组：1 p19 q和IDH突变，IDH突变-主要包含TP 53突变的肿瘤，以及没有这些变化。我们证实IDH突变风险比为0.358，是预后良好的独立预后因素。这些数据完善了目前对IDH突变预后影响和基因型-表型相关性的认识。
IDH1/2 mutation is the most frequent genomic alteration found in gliomas, affecting 40% of these tumors and is one of the earliest alterations occurring in gliomagenesis. We investigated a series of 1305 gliomas and showed that IDH mutation is almost constant in 1p19q codeleted tumors. We found that the distribution of IDH1R132H, IDH1nonR132H, and IDH2 mutations differed between astrocytic, mixed, and oligodendroglial tumors, with an overrepresentation of IDH2 mutations in oligodendroglial phenotype and an overrepresentation of IDH1nonR132H in astrocytic tumors. We stratified grade II and grade III gliomas according to the codeletion of 1p19q and IDH mutation to define three distinct prognostic subgroups: 1p19q and IDH mutated, IDH mutated—which contains mostly TP53 mutated tumors, and none of these alterations. We confirmed that IDH mutation with a hazard ratio = 0.358 is an independent prognostic factor of good outcome. These data refine current knowledge on IDH mutation prognostic impact and genotype-phenotype associations.
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影响因子：
12.7
作者：
Hartmann, Christian;Meyer, Jochen;von Deimling, Andreas
通讯作者：
von Deimling, Andreas
影响因子：
45.3
作者：
Sanson, Marc;Marie, Yannick;Delattre, Jean-Yves
通讯作者：
Delattre, Jean-Yves
影响因子：
45.3
作者：
Weller, Michael;Felsberg, Joerg;Loeffler, Markus
通讯作者：
Loeffler, Markus
影响因子：
5.4
作者：
Labuda, Tord;Christensen, Jan Pravsgaard;Odum, Niels
通讯作者：
Odum, Niels
DOI：
10.1126/science.1164382
发表时间：
2008-09-26
期刊：
Science (New York, N.Y.)
影响因子：
--
作者：
Parsons DW;Jones S;Zhang X;Lin JC;Leary RJ;Angenendt P;Mankoo P;Carter H;Siu IM;Gallia GL;Olivi A;McLendon R;Rasheed BA;Keir S;Nikolskaya T;Nikolsky Y;Busam DA;Tekleab H;Diaz LA Jr;Hartigan J;Smith DR;Strausberg RL;Marie SK;Shinjo SM;Yan H;Riggins GJ;Bigner DD;Karchin R;Papadopoulos N;Parmigiani G;Vogelstein B;Velculescu VE;Kinzler KW
通讯作者：
Kinzler KW