Analysis of the coding genome of diffuse large B-cell lymphoma

被引：785

作者：

Pasqualucci, Laura ^{[1
,2
,3
]}

Trifonov, Vladimir ^{[4
,5
]}

Fabbri, Giulia ^{[1
]}

Ma, Jing ^{[6
]}

Rossi, Davide ^{[7
,8
]}

Chiarenza, Annalisa ^{[1
]}

Wells, Victoria A. ^{[1
]}

Grunn, Adina ^{[1
]}

Messina, Monica ^{[1
]}

Elliot, Oliver ^{[4
,5
]}

Chan, Joseph ^{[4
,5
]}

Bhagat, Govind ^{[2
,3
]}

Chadburn, Amy ^{[9
]}

Gaidano, Gianluca ^{[7
,8
]}

Mullighan, Charles G. ^{[6
]}

Rabadan, Raul ^{[4
,5
]}

Dalla-Favera, Riccardo ^{[1
,2
,3
,10
]}

机构：

[1] Columbia Univ, Inst Canc Genet, New York, NY 10027 USA

[2] Columbia Univ, Herbert Irving Comprehens Canc Ctr, New York, NY USA

[3] Columbia Univ, Dept Pathol & Cell Biol, New York, NY USA

[4] Columbia Univ, Dept Biomed Informat, New York, NY USA

[5] Columbia Univ, Ctr Computat Biol & Bioinformat, New York, NY USA

[6] St Jude Childrens Hosp, Dept Pathol, Memphis, TN 38105 USA

[7] Amedeo Avogadro Univ Eastern Piedmont, Div Hematol, Dept Clin & Expt Med, Novara, Italy

[8] Amedeo Avogadro Univ Eastern Piedmont, Interdisciplinary Res Ctr Autoimmune Dis, Novara, Italy

[9] Northwestern Univ, Dept Pathol, Feinberg Sch Med, Chicago, IL 60611 USA

[10] Columbia Univ, Dept Genet & Dev, New York, NY USA

来源：

NATURE GENETICS | 2011年 / 43卷 / 09期

基金：

美国国家卫生研究院;

关键词：

ACUTE MYELOID-LEUKEMIA; NF-KAPPA-B; CHRONIC LYMPHOCYTIC-LEUKEMIA; GENETIC ALTERATIONS; MULTIPLE-MYELOMA; HODGKIN LYMPHOMA; ANALYSIS REVEALS; PHD FINGER; MUTATIONS; CANCER;

D O I：

10.1038/ng.892

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Diffuse large B-cell lymphoma (DLBCL) is the most common form of human lymphoma. Although a number of structural alterations have been associated with the pathogenesis of this malignancy, the full spectrum of genetic lesions that are present in the DLBCL genome, and therefore the identity of dysregulated cellular pathways, remains unknown. By combining next-generation sequencing and copy number analysis, we show that the DLBCL coding genome contains, on average, more than 30 clonally represented gene alterations per case. This analysis also revealed mutations in genes not previously implicated in DLBCL pathogenesis, including those regulating chromatin methylation (MLL2; 24% of samples) and immune recognition by T cells. These results provide initial data on the complexity of the DLBCL coding genome and identify novel dysregulated pathways underlying its pathogenesis.

引用

页码：830 / U33

页数：10

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