Whole-genome sequencing provides new insights into the clonal architecture of Barrett's esophagus and esophageal adenocarcinoma

被引：215

作者：

Ross-Innes, Caryn S. ^{[1
]}

Becq, Jennifer ^{[2
]}

Warren, Andrew ^{[2
]}

Cheetham, R. Keira ^{[2
]}

Northen, Helen ^{[2
]}

O'Donovan, Maria ^{[3
]}

Malhotra, Shalini ^{[3
]}

di Pietro, Massimiliano ^{[1
]}

Ivakhno, Sergii ^{[2
]}

He, Miao ^{[2
]}

Weaver, Jamie M. J. ^{[1
]}

Lynch, Andy G. ^{[4
]}

Kingsbury, Zoya ^{[2
]}

Ross, Mark ^{[2
]}

Humphray, Sean ^{[2
]}

Bentley, David ^{[2
]}

Fitzgerald, Rebecca C. ^{[1
]}

机构：

[1] Univ Cambridge, Hutchison Med Res Council Res Ctr, Med Res Council Canc Unit, Cambridge, England

[2] Illumina, Saffron Walden, England

[3] Addenbrookes Hosp, Dept Histopathol, Cambridge CB2 2QQ, England

[4] Univ Cambridge, Canc Res UK Cambridge Inst, Cambridge, England

来源：

NATURE GENETICS | 2015年 / 47卷 / 09期

基金：

英国医学研究理事会;

关键词：

21 BREAST CANCERS; NEOPLASTIC PROGRESSION; MUTATIONAL PROCESSES; INCREASED RISK; P53; CARCINOGENESIS; SURVEILLANCE; CARCINOMA; P16;

D O I：

10.1038/ng.3357

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

The molecular genetic relationship between esophageal adenocarcinoma (EAC) and its precursor lesion, Barrett's esophagus, is poorly understood. Using whole-genome sequencing on 23 paired Barrett's esophagus and EAC samples, together with one in-depth Barrett's esophagus case study sampled over time and space, we have provided the following new insights: (i) Barrett's esophagus is polyclonal and highly mutated even in the absence of dysplasia; (ii) when cancer develops, copy number increases and heterogeneity persists such that the spectrum of mutations often shows surprisingly little overlap between EAC and adjacent Barrett's esophagus; and (iii) despite differences in specific coding mutations, the mutational context suggests a common causative insult underlying these two conditions. From a clinical perspective, the histopathological assessment of dysplasia appears to be a poor reflection of the molecular disarray within the Barrett's epithelium, and a molecular Cytosponge technique overcomes sampling bias and has the capacity to reflect the entire clonal architecture.

引用

页码：1038 / +

页数：11

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