Integrated genomic analyses identify ARID1A and ARID1B alterations in the childhood cancer neuroblastoma

被引：328

作者：

Sausen, Mark ^{[1
]}

Leary, Rebecca J. ^{[1
]}

Jones, Sian ^{[1
]}

Wu, Jian ^{[1
]}

Reynolds, C. Patrick ^{[2
]}

Liu, Xueyuan ^{[3
]}

Blackford, Amanda

Parmigiani, Giovanni ^{[4
,5
]}

Diaz, Luis A., Jr. ^{[1
]}

Papadopoulos, Nickolas ^{[1
]}

Vogelstein, Bert ^{[1
,6
]}

Kinzler, Kenneth W. ^{[1
]}

Velculescu, Victor E. ^{[1
]}

Hogarty, Michael D. ^{[3
,7
]}

机构：

[1] Sidney Kimmel Comprehens Canc Ctr Johns Hopkins, Ludwig Ctr Canc Genet & Therapeut, Baltimore, MD USA

[2] Texas Tech Univ Hlth Sci Ctr, Ctr Canc, Lubbock, TX USA

[3] Childrens Hosp Philadelphia, Div Oncol, Philadelphia, PA 19104 USA

[4] Dana Farber Canc Inst, Dept Biostat & Computat Biol, Baltimore, MD USA

[5] Harvard Univ, Sch Publ Hlth, Dept Biostat, Boston, MA 02115 USA

[6] Sidney Kimmel Comprehens Canc Ctr Johns Hopkins, Howard Hughes Med Inst, Baltimore, MD USA

[7] Univ Penn, Dept Pediat, Perelman Sch Med, Philadelphia, PA 19104 USA

来源：

NATURE GENETICS | 2013年 / 45卷 / 01期

基金：

美国国家卫生研究院;

关键词：

CHROMATIN REMODELING GENES; CELL CARCINOMA; INACTIVATING MUTATIONS; ACTIVATING MUTATIONS; RECURRENT MUTATIONS; THERAPEUTIC TARGET; FREQUENT MUTATIONS; LUNG-CANCER; ALK KINASE; DNA;

D O I：

10.1038/ng.2493

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Neuroblastomas are tumors of peripheral sympathetic neurons and are the most common solid tumor in children. To determine the genetic basis for neuroblastoma, we performed whole-genome sequencing (6 cases), exome sequencing (16 cases), genome-wide rearrangement analyses (32 cases) and targeted analyses of specific genomic loci (40 cases) using massively parallel sequencing. On average, each tumor had 19 somatic alterations in coding genes (range of 3-70). Among genes not previously known to be involved in neuroblastoma, chromosomal deletions and sequence alterations of the chromatin-remodeling genes ARID1A and ARID1B were identified in 8 of 71 tumors (11%) and were associated with early treatment failure and decreased survival. Using tumor-specific structural alterations, we developed an approach to identify rearranged DNA fragments in sera, providing personalized biomarkers for minimal residual disease detection and monitoring. These results highlight the dysregulation of chromatin remodeling in pediatric tumorigenesis and provide new approaches for the management of patients with neuroblastoma.

引用

页码：12 / U31

页数：8

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