The spectrum of somatic mutations in high-risk acute myeloid leukaemia with-7/del(7q)

被引：33

作者：

McNerney, Megan E. ^{[1
,2
,3
]}

Brown, Christopher D. ^{[4
]}

Peterson, April L. ^{[1
]}

Banerjee, Mekhala ^{[5
]}

Larson, Richard A. ^{[3
,5
]}

Anastasi, John ^{[2
,3
]}

Le Beau, Michelle M. ^{[1
,3
,5
]}

White, Kevin P. ^{[1
,3
,6
]}

机构：

[1] Univ Chicago, Inst Genom & Syst Biol, Chicago, IL 60637 USA

[2] Univ Chicago, Dept Pathol, Chicago, IL 60637 USA

[3] Univ Chicago, Ctr Comprehens Canc, Chicago, IL 60637 USA

[4] Univ Penn, Dept Genet, Philadelphia, PA 19104 USA

[5] Univ Chicago, Sect Hematol Oncol, Dept Med, Chicago, IL 60637 USA

[6] Univ Chicago, Dept Human Genet, Med Genet Sect, Chicago, IL 60637 USA

来源：

BRITISH JOURNAL OF HAEMATOLOGY | 2014年 / 166卷 / 04期

基金：

美国国家卫生研究院;

关键词：

myeloid leukaemia; monosomy; 7; CUX1; CHROMOSOME-7; AML;

D O I：

10.1111/bjh.12964

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

-7/del(7q) occurs in half of myeloid malignancies with adverse-risk cytogenetic features and is associated with poor survival. We identified the spectrum of mutations that co-occur with -7/del(7q) in 40 patients with de novo or therapy-related myeloid neoplasms. -7/del(7q) leukaemias have a distinct mutational profile characterized by low frequencies of alterations in genes encoding transcription factors, cohesin and DNA-methylation-related proteins. In contrast, RAS pathway activating mutations occurred in 50% of cases, a significantly higher frequency than other acute myeloid leukaemias and higher than previously reported. Our data provide guidance for which pathways may be most relevant in the treatment of adverse-risk myeloid leukaemia.

引用

页码：550 / 556

页数：7

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