IDH1 mutations are present in the majority of common adult gliomas but rare in primary glioblastomas.
IDH1 mutations are present in the majority of common adult gliomas but rare in primary glioblastomas.
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DOI：
10.1215/15228517-2009-025
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发表时间：
2009-08
期刊：
影响因子：
15.9
通讯作者：
Collins VP
中科院分区：
文献类型：
--
作者：
Ichimura K;Pearson DM;Kocialkowski S;Bäcklund LM;Chan R;Jones DT;Collins VP
我们在596例所有主要类型的原发性颅内肿瘤中筛选了可溶性异柠檬酸脱氢酶1（NADP+）（IDH 1）基因外显子4的突变。密码子132突变见于54%的星形细胞瘤和65%的少突胶质细胞瘤，但仅见于6%的胶质母细胞瘤（3%的原发性胶质母细胞瘤和50%的继发性胶质母细胞瘤）。在研究的任何其他类型的肿瘤中没有突变。虽然肿瘤蛋白p53基因（TP 53）突变和总1 p/19 q缺失是相互排斥的，IDH 1突变与这些遗传异常密切相关。所有四种类型的突变IDH 1蛋白表现出降低的酶活性。数据表明IDH 1突变与TP 53突变或1 p/19 q总缺失的组合在大多数少突胶质细胞瘤、弥漫性星形细胞瘤、间变性星形细胞瘤和继发性胶质母细胞瘤中是频繁和早期的变化，但在原发性胶质母细胞瘤中不是。
We screened exon 4 of the gene isocitrate dehydrogenase 1 (NADP+), soluble (IDH1) for mutations in 596 primary intracranial tumors of all major types. Codon 132 mutation was seen in 54% of astrocytomas and 65% of oligodendroglial tumors but in only 6% of glioblastomas (3% of primary and 50% of secondary glioblastomas). There were no mutations in any other type of tumor studied. While mutations in the tumor protein p53 gene (TP53) and total 1p/19q deletions were mutually exclusive, IDH1 mutations were strongly correlated with these genetic abnormalities. All four types of mutant IDH1 proteins showed decreased enzymatic activity. The data indicate that IDH1 mutation combined with either TP53 mutation or total 1p/19q loss is a frequent and early change in the majority of oligodendroglial tumors, diffuse astrocytomas, anaplastic astrocytomas and secondary glioblastomas but not in primary glioblastomas.
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DOI：
10.1097/00005072-199911000-00007
发表时间：
1999-11-01
影响因子：
3.2
作者：
Schmidt, EE;Ichimura, K;Collins, VP
通讯作者：
Collins, VP
DOI：
10.1097/00005072-200606000-00003
发表时间：
2006-06
影响因子：
3.2
作者：
McCabe MG;Ichimura K;Liu L;Plant K;Bäcklund LM;Pearson DM;Collins VP
通讯作者：
Collins VP
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
影响因子：
4.8
作者：
Geisbrecht, BV;Gould, SJ
通讯作者：
Gould, SJ
影响因子：
56.9
作者：
Sjoeblom, Tobias;Jones, Sian;Velculescu, Victor E.
通讯作者：
Velculescu, Victor E.