Integrated genomic characterization of oesophageal carcinoma

被引：1149

作者：

Kim, Jihun ^{[1
]}

Bowlby, Reanne

Mungall, Andrew J.

Robertson, A. Gordon

Odze, Robert D. ^{[3
,4
]}

Cherniack, Andrew D. ^{[5
,6
]}

Shih, Juliann

Pedamallu, Chandra Sekhar ^{[5
,6
]}

Cibulskis, Carrie

Dunford, Andrew ^{[5
]}

Meier, Samuel R.

Kim, Jaegil

Raphael, Benjamin J. ^{[7
,8
]}

Wu, Hsin-Ta ^{[7
,8
]}

Wong, Alexandra M. ^{[7
,8
]}

Willis, Joseph E. ^{[9
,10
]}

Bass, Adam J. ^{[6
,11
]}

Derks, Sarah ^{[6
,12
]}

Garman, Katherine ^{[13
]}

McCall, Shannon J.

Wiznerowicz, Maciej ^{[14
,15
,16
]}

Pantazi, Angeliki

Parfenov, Michael

Thorsson, Vesteinn ^{[19
]}

Shmulevich, Ilya

Dhankani, Varsha

Miller, Michael

Sakai, Ryo ^{[20
,21
]}

Wang, Kenneth ^{[22
]}

Schultz, Nikolaus ^{[23
]}

Shen, Ronglai ^{[24
]}

Arora, Arshi

Weinhold, Nils

Sanchez-Vega, Francisco

Kelsen, David P. ^{[26
]}

Zhang, Julia ^{[27
]}

Felau, Ina

Demchok, John ^{[27
]}

Rabkin, Charles S. ^{[28
]}

Camargo, M. Constanza

Zenklusen, Jean Claude

Bowen, Jay

Leraas, Kristen ^{[29
]}

Lichtenberg, Tara M.

Curtis, Christina ^{[30
,31
]}

Seoane, Jose A. ^{[30
,31
]}

Ojesina, Akinyemi I. ^{[32
,33
]}

Beer, David G. ^{[34
]}

Gulley, Margaret L. ^{[35
]}

Pennathur, Arjun

机构：

[1] Univ Ulsan, Coll Med, Asan Med Ctr, Dept Pathol, Seoul 05505, South Korea

[2] BC Canc Agcy, Canadas Michael Smith Genome Sci Ctr, Vancouver, BC V5Z 4S6, Canada

[3] Brigham & Womens Hosp, Dept Pathol, 75 Francis St, Boston, MA 02115 USA

[4] Harvard Med Sch, Dept Pathol, Boston, MA 02215 USA

[5] Eli & Edythe L Broad Inst Massachusetts Inst Tech, Cambridge, MA 02142 USA

[6] Dana Farber Canc Inst, Dept Med Oncol, Boston, MA 02115 USA

[7] Brown Univ, Dept Comp Sci, Providence, RI 02912 USA

[8] Brown Univ, Ctr Computat Mol Biol, Providence, RI 02912 USA

[9] Case Western Reserve Univ, Dept Pathol, Cleveland, OH 44106 USA

[10] Case Med Ctr, Dept Pathol, Cleveland, OH 44106 USA

[11] Dana Farber Canc Inst, Ctr Canc Genome Discovery, Boston, MA 02115 USA

[12] Vrije Univ Amsterdam, Med Ctr, Dept Med Oncol, Amsterdam, Netherlands

[13] Duke Univ, Dept Pathol, Durham, NC 27710 USA

[14] Int Inst Mol Oncol, PL-60203 Poznan, Poland

[15] Greater Poland Canc Ctr, PL-61866 Poznan, Poland

[16] Poznan Univ Med Sci, PL-61866 Poznan, Poland

[17] Harvard Med Sch, Dept Genet, Boston, MA 02115 USA

[18] KEW Grp Inc, Cambridge, MA 02139 USA

[19] Inst Syst Biol, Seattle, WA 98109 USA

[20] Katholieke Univ Leuven, Dept Elect Engn ESAT STADIUS, Leuven, Belgium

[21] Katholieke Univ Leuven, iMinds Med IT, B-3001 Leuven, Belgium

[22] Mayo Clin, Div Gastroenterol & Hepatol, Rochester, MN 55905 USA

[23] Mem Sloan Kettering Canc Ctr, Ctr Mol Oncol, New York, NY 10065 USA

[24] Mem Sloan Kettering Canc Ctr, Dept Epidemiol & Biostat, New York, NY 10065 USA

[25] Mem Sloan Kettering Canc Ctr, Computat Biol Ctr, New York, NY 10065 USA

[26] Mem Sloan Kettering Canc Ctr, Dept Med, New York, NY 10065 USA

[27] NCI, Bethesda, MD 20892 USA

[28] NCI, Div Canc Epidemiol & Genet, Bethesda, MD 20892 USA

[29] Nationwide Childrens Hosp, Res Inst, Columbus, OH 43205 USA

[30] Stanford Univ, Sch Med, Div Oncol, Dept Med, Stanford, CA 94305 USA

[31] Stanford Univ, Sch Med, Dept Genet, Stanford, CA 94305 USA

[32] Univ Alabama Birmingham, Dept Epidemiol, Birmingham, AL 35294 USA

[33] HudsonAlpha Inst Biotechnol, Huntsville, AL 35806 USA

[34] Univ Michigan, Ctr Comprehens Canc, Dept Thorac Surg, Ann Arbor, MI 48109 USA

[35] Univ North Carolina Chapel Hill, Dept Pathol & Lab Med, Chapel Hill, NC 27599 USA

[36] Univ Pittsburgh, Med Ctr, Sch Med, Dept Cardiothorac Surg, Pittsburgh, PA 15213 USA

[37] Univ Rochester, Dept Pathol & Lab Med, Rochester, NY 14642 USA

[38] Univ Southern Calif, Dept Biochem & Mol Biol, Los Angeles, CA 90033 USA

[39] Univ Texas MD Anderson Canc Ctr, Dept Bioinformat & Computat Biol, Houston, TX 77030 USA

[40] Univ Texas MD Anderson Canc Ctr, Dept Syst Biol, Houston, TX 77030 USA

[41] Univ Texas MD Anderson Canc Ctr, Dept Pathol, Houston, TX 77030 USA

[42] Fred Hutchinson Canc Res Ctr, North Seattle, WA 98109 USA

[43] Van Andel Res Inst, Ctr Epigenet, Grand Rapids, MI 49503 USA

[44] Vanderbilt Univ, Med Ctr, Div Gastroenterol, Dept Med, Nashville, TN 37232 USA

[45] Washington Univ, McDonnell Genome Inst, St Louis, MO 63108 USA

[46] Harvard Med Sch, Dept Biomed Informat, Boston, MA 02115 USA

[47] Massachusetts Gen Hosp, Dept Pathol, Boston, MA 02114 USA

[48] Washington Univ, Sch Med, Dept Med, St Louis, MO 63108 USA

[49] Harvard Med Sch, Dept Med, Boston, MA 02215 USA

[50] Dana Farber Canc Inst, Dept Canc Biol, Boston, MA 02215 USA

来源：

NATURE | 2017年 / 541卷 / 7636期

基金：

美国国家卫生研究院;

关键词：

SQUAMOUS-CELL CARCINOMA; STRUCTURAL VARIATIONS; CANCER STATISTICS; LINEAGE-SURVIVAL; ADENOCARCINOMA; GENES; LUNG; IDENTIFICATION; SIGNATURES; LANDSCAPE;

D O I：

10.1038/nature20805

中图分类号：

O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

Oesophageal cancers are prominent worldwide; however, there are few targeted therapies and survival rates for these cancers remain dismal. Here we performed a comprehensive molecular analysis of 164 carcinomas of the oesophagus derived from Western and Eastern populations. Beyond known histopathological and epidemiologic distinctions, molecular features differentiated oesophageal squamous cell carcinomas from oesophageal adenocarcinomas. Oesophageal squamous cell carcinomas resembled squamous carcinomas of other organs more than they did oesophageal adenocarcinomas. Our analyses identified three molecular subclasses of oesophageal squamous cell carcinomas, but none showed evidence for an aetiological role of human papillomavirus. Squamous cell carcinomas showed frequent genomic amplifications of CCND1 and SOX2 and/or TP63, whereas ERBB2, VEGFA and GATA4 and GATA6 were more commonly amplified in adenocarcinomas. Oesophageal adenocarcinomas strongly resembled the chromosomally unstable variant of gastric adenocarcinoma, suggesting that these cancers could be considered a single disease entity. However, some molecular features, including DNA hypermethylation, occurred disproportionally in oesophageal adenocarcinomas. These data provide a framework to facilitate more rational categorization of these tumours and a foundation for new therapies.

引用

页码：169 / +

页数：7

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