Comparative Genomic Analysis of Esophageal Adenocarcinoma and Squamous Cell Carcinoma

被引：299

作者：

Agrawal, Nishant ^{[1
,2
,3
]}

Jiao, Yuchen ^{[1
,2
]}

Bettegowda, Chetan ^{[1
,2
,4
]}

Hutfless, Susan M. ^{[5
]}

Wang, Yuxuan ^{[1
,2
]}

David, Stefan ^{[6
]}

Cheng, Yulan ^{[5
]}

Twaddell, William S. ^{[7
]}

Latt, Nyan L. ^{[6
]}

Shin, Eun J. ^{[5
]}

Wang, Li-Dong ^{[8
,9
]}

Wang, Liang ^{[8
,10
]}

Yang, Wancai ^{[8
,11
]}

Velculescu, Victor E. ^{[1
,2
]}

Vogelstein, Bert ^{[1
,2
]}

Papadopoulos, Nickolas ^{[1
,2
]}

Kinzler, Kenneth W. ^{[1
,2
]}

Meltzer, Stephen J. ^{[5
]}

机构：

[1] Johns Hopkins Univ, Sch Med, Ludwig Ctr Canc Genet & Therapeut, Baltimore, MD 21287 USA

[2] Johns Hopkins Univ, Sch Med, Howard Hughes Med Inst, Baltimore, MD 21287 USA

[3] Johns Hopkins Univ, Sch Med, Dept Otolaryngol Head & Neck Surg, Baltimore, MD 21287 USA

[4] Johns Hopkins Univ, Sch Med, Dept Neurosurg, Baltimore, MD 21287 USA

[5] Johns Hopkins Univ, Sch Med, Div Gastroenterol & Hepatol, Baltimore, MD 21287 USA

[6] Greater Baltimore Med Ctr, Dept Internal Med, Baltimore, MD USA

[7] Univ Maryland, Sch Med, Dept Pathol, Baltimore, MD 21201 USA

[8] Xinxiang Med Univ, Dept Pathol, Zhengzhou, Henan, Peoples R China

[9] Zhengzhou Univ, Affiliated Hosp 1, Henan Key Lab Esophageal Canc Res, Zhengzhou, Henan, Peoples R China

[10] Med Coll Wisconsin, Dept Pathol, Milwaukee, WI 53226 USA

[11] Univ Illinois, Dept Pathol, Chicago, IL USA

来源：

CANCER DISCOVERY | 2012年 / 2卷 / 10期

关键词：

BARRETTS-ESOPHAGUS; CYCLIN-E; GASTROESOPHAGEAL-REFLUX; TUMOR-SUPPRESSOR; GENE-MUTATIONS; P53; MUTATIONS; CANCER; NOTCH; RISK; PHOSPHORYLATION;

D O I：

10.1158/2159-8290.CD-12-0189

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

Esophageal cancer ranks sixth in cancer death. To explore its genetic origins, we conducted exomic sequencing on 11 esophageal adenocarcinomas (EAC) and 12 esophageal squamous cell carcinomas (ESCC) from the United States. Interestingly, inactivating mutations of NOTCH1 were identified in 21% of ESCCs but not in EACs. There was a substantial disparity in the spectrum of mutations, with more indels in ESCCs, A:T>C:G transversions in EACs, and C:G>G:C transversions in ESCCs (P < 0.0001). Notably, NOTCH1 mutations were more frequent in North American ESCCs (11 of 53 cases) than in ESCCs from China (1 of 48 cases). A parallel analysis found that most mutations in EACs were already present in matched Barrett esophagus. These discoveries highlight key genetic differences between EACs and ESCCs and between American and Chinese ESCCs, and suggest that NOTCH1 is a tumor suppressor gene in the esophagus. Finally, we provide a genetic basis for the evolution of EACs from Barrett esophagus.

引用

页码：899 / 905

页数：7

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