IDH2 mutations are frequent in angioimmunoblastic T-cell lymphoma

被引：384

作者：

Cairns, Rob A. ^{[1
]}

Iqbal, Javeed ^{[2
]}

Lemonnier, Francois ^{[3
]}

Kucuk, Can ^{[2
]}

de Leval, Laurence ^{[4
]}

Jais, Jean-Philippe ^{[5
]}

Parrens, Marie ^{[6
]}

Martin, Antoine ^{[7
]}

Xerri, Luc ^{[8
]}

Brousset, Pierre ^{[9
,10
]}

Chan, Li Chong ^{[11
]}

Chan, Wing-Chung ^{[2
]}

Gaulard, Philippe ^{[3
]}

Mak, Tak W. ^{[1
]}

机构：

[1] Princess Margaret Hosp, Campbell Family Inst Breast Canc Res, Univ Hlth Network, Toronto, ON M5G 2C1, Canada

[2] Univ Nebraska Med Ctr, Dept Pathol & Microbiol, Omaha, NE USA

[3] Univ Paris Est, Hop Henri Mondor, INSERM, Inserm,Dept Pathol,U955, Creteil, France

[4] Vandois Univ Hosp Lausanne, Inst Pathol, Ctr Hosp Univ CHU, Lausanne, Switzerland

[5] Univ Paris 05, AP HP, Hop Necker, Serv Biostat, Paris, France

[6] Hop Haut Eveque, Dept Pathol, Pessac, France

[7] CHU Bobigny, Dept Pathol, AP HP, Bobigny, France

[8] Inst J Paoli I Calmettes, Dept Biopathol, F-13009 Marseille, France

[9] Univ Toulouse 3, Dept Pathol, F-31062 Toulouse, France

[10] CHU Purpan, Unite Mixte Rech 1037, Canc Res Ctr Toulouse, Toulouse, France

[11] Univ Hong Kong, Dept Pathol, Hong Kong, Hong Kong, Peoples R China

来源：

BLOOD | 2012年 / 119卷 / 08期

基金：

加拿大健康研究院; 美国国家卫生研究院;

关键词：

CANCER; PHENOTYPE; LEUKEMIA; GLIOMAS;

D O I：

10.1182/blood-2011-11-391748

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Mutations in isocitrate dehydrogenase 1 (IDH1) and isocitrate dehydrogenase 2 (IDH2) occur in most grade 2 and 3 gliomas, secondary glioblastomas, and a subset of acute myelogenous leukemias but have not been detected in other tumor types. The mutations occur at specific arginine residues and result in the acquisition of a novel enzymatic activity that converts 2-oxoglutarate to D-2-hydroxyglutarate. This study reports IDH1 and IDH2 genotyping results from a set of lymphomas, which included a large set of peripheral T-cell lymphomas. IDH2 mutations were identified in approximately 20% of angioimmunoblastic T-cell lymphomas (AITLs), but not in other peripheral T-cell lymphoma entities. These results were confirmed in an independent set of AITL patients, where the IDH2 mutation rate was approximately 45%. This is the second common genetic lesion identified in AITL after TET2 and extends the number of neoplastic diseases where IDH1 and IDH2 mutations may play a role. (Blood. 2012;119(8):1901-1903)

引用

页码：1901 / 1903

页数：3

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