Clonality and Evolutionary History of Rhabdomyosarcoma

被引：52

作者：

Chen, Li ^{[1
]}

Shern, Jack F. ^{[1
,2
]}

Wei, Jun S. ^{[1
]}

Yohe, Marielle E. ^{[1
,2
]}

Song, Young K. ^{[1
]}

Hurd, Laura ^{[1
]}

Liao, Hongling ^{[1
]}

Catchpoole, Daniel ^{[3
]}

Skapek, Stephen X. ^{[4
]}

Barr, Frederic G. ^{[5
]}

Hawkins, Douglas S. ^{[6
]}

Khan, Javed ^{[1
,2
]}

机构：

[1] NCI, Genet Branch, Oncogen Sect, Ctr Canc Res,NIH, Bethesda, MD 20892 USA

[2] NIH, Pediat Oncol Branch, Ctr Canc Res, Bethesda, MD 20892 USA

[3] Childrens Hosp Westmead, Biospecimens Res & Tumour Bank, Kids Res Inst, Westmead, NSW, Australia

[4] UT Southwestern Med Ctr, Dept Pediat, Div Pediat Hematol Oncol, Dallas, TX USA

[5] NCI, Pathol Lab, Ctr Canc Res, NIH, Bethesda, MD 20892 USA

[6] Seattle Childrens Hosp, Fred Hutchinson Canc Res Ctr, Dept Pediat, Seattle, WA USA

来源：

PLOS GENETICS | 2015年 / 11卷 / 03期

基金：

美国国家卫生研究院;

关键词：

CHRONIC LYMPHOCYTIC-LEUKEMIA; ACUTE MYELOID-LEUKEMIA; EMBRYONAL RHABDOMYOSARCOMA; INTERGROUP RHABDOMYOSARCOMA; PROTEIN-KINASE; CHILDHOOD RHABDOMYOSARCOMA; ALVEOLAR RHABDOMYOSARCOMA; PANCREATIC-CANCER; GENOMIC ANALYSIS; POINT MUTATIONS;

D O I：

10.1371/journal.pgen.1005075

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

To infer the subclonality of rhabdomyosarcoma (RMS) and predict the temporal order of genetic events for the tumorigenic process, and to identify novel drivers, we applied a systematic method that takes into account germline and somatic alterations in 44 tumor-normal RMS pairs using deep whole-genome sequencing. Intriguingly, we find that loss of heterozygosity of 11p15.5 and mutations in RAS pathway genes occur early in the evolutionary history of the PAX-fusion-negative-RMS (PFN-RMS) subtype. We discover several early mutations in non-RAS mutated samples and predict them to be drivers in PFN-RMS including recurrent mutation of PKN1. In contrast, we find that PAX-fusion-positive (PFP) subtype tumors have undergone whole-genome duplication in the late stage of cancer evolutionary history and have acquired fewer mutations and subclones than PFN-RMS. Moreover we predict that the PAX3-FOXO1 fusion event occurs earlier than the whole genome duplication. Our findings provide information critical to the understanding of tumorigenesis of RMS.

引用

页数：25

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