The Somatic Genomic Landscape of Chromophobe Renal Cell Carcinoma

被引：578

作者：

Davis, Caleb F. ^{[1
]}

Ricketts, Christopher J. ^{[2
]}

Wang, Min ^{[1
]}

Yang, Lixing ^{[3
]}

Cherniack, Andrew D. ^{[4
]}

Shen, Hui ^{[5
]}

Buhay, Christian ^{[1
]}

Kang, Hyojin ^{[32
]}

Kim, Sang Cheol ^{[6
]}

Fahey, Catherine C. ^{[7
]}

Hacker, Kathryn E. ^{[7
]}

Bhanot, Gyan ^{[8
,9
]}

Gordenin, Dmitry A. ^{[10
]}

Chu, Andy ^{[11
]}

Gunaratne, Preethi H. ^{[1
,12
]}

Biehl, Michael ^{[13
]}

Seth, Sahil ^{[14
]}

Kaipparettu, Benny A. ^{[15
,16
]}

Bristow, Christopher A. ^{[14
]}

Donehower, Lawrence A. ^{[1
]}

Wallen, Eric M. ^{[17
]}

Smith, Angela B. ^{[17
]}

Tickoo, Satish K. ^{[18
]}

Tamboli, Pheroze ^{[19
]}

Reuter, Victor ^{[18
]}

Schmidt, Laura S. ^{[2
,20
]}

Hsieh, James J. ^{[21
,22
]}

Choueiri, Toni K. ^{[23
,24
]}

Hakimi, A. Ari ^{[24
,25
]}

Chin, Lynda ^{[4
,14
]}

Meyerson, Matthew ^{[4
,23
]}

Kucherlapati, Raju ^{[26
,27
]}

Park, Woong-Yang ^{[6
,28
]}

Robertson, A. Gordon ^{[11
]}

Laird, Peter W. ^{[5
]}

Henske, Elizabeth P. ^{[4
,23
,24
]}

Kwiatkowski, David J. ^{[4
,23
,24
]}

Park, Peter J. ^{[3
,26
]}

Morgan, Margaret ^{[1
]}

Shuch, Brian ^{[33
]}

Muzny, Donna ^{[1
]}

Wheeler, David A. ^{[1
]}

Linehan, W. Marston ^{[2
]}

Gibbs, Richard A. ^{[1
]}

Rathmell, W. Kimryn ^{[17
,29
,30
]}

Creighton, Chad J. ^{[1
,15
,31
]}

Signoretti, Sabina

Seiler, Michael

Chao, Hsu

Dahdouli, Mike

机构：

[1] Baylor Coll Med, Human Genome Sequencing Ctr, Houston, TX 77030 USA

[2] NCI, Urol Oncol Branch, Ctr Canc Res, Bethesda, MD 20892 USA

[3] Harvard Univ, Sch Med, Ctr Biomed Informat, Boston, MA 02115 USA

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

[5] Univ So Calif, USC Epigenome Ctr, Los Angeles, CA 90033 USA

[6] Sungkyunkwan Univ, Sch Med, Samsung Med Ctr, Samsung Genome Inst, Seoul, South Korea

[7] Univ N Carolina, Lineberger Comprehens Canc Ctr, Curriculum Genet & Mol Biol, Chapel Hill, NC 27599 USA

[8] Rutgers State Univ, Dept Mol Biol & Biochem, Piscataway, NJ 08854 USA

[9] Canc Inst New Jersey, New Brunswick, NJ 08903 USA

[10] NIEHS, Res Triangle Pk, NC 27709 USA

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

[12] Univ Houston, Dept Biol & Biochem, Houston, TX 77204 USA

[13] Univ Groningen, Intelligent Syst Grp, Johann Bernoulli Inst Math & Comp Sci, NL-9700 AK Groningen, Netherlands

[14] Univ Texas MD Anderson Canc Ctr, Inst Appl Canc Sci, Dept Genom Med, Houston, TX 77030 USA

[15] Baylor Coll Med, Dan L Duncan Canc Ctr, Houston, TX 77030 USA

[16] Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA

[17] Univ N Carolina, Dept Urol, Chapel Hill, NC 27599 USA

[18] Mem Sloan Kettering Canc Ctr, Dept Pathol, New York, NY 10065 USA

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

[20] Frederick Natl Lab Canc Res, Basic Sci Program, Leidos Biomed Res, Frederick, MD 21702 USA

[21] Weill Cornell Med Coll, Dept Med, New York, NY 10021 USA

[22] Mem Sloan Kettering Canc Ctr, Human Oncol & Pathogenesis Program, New York, NY 10065 USA

[23] Dana Farber Canc Inst, Dept Med Oncol, Boston, MA 02215 USA

[24] Harvard Univ, Sch Med, Dept Med, Boston, MA 02215 USA

[25] Mem Sloan Kettering Canc Ctr, Urol Serv, Dept Surg, New York, NY 10065 USA

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

[27] Brigham & Womens Hosp, Div Genet, Boston, MA 02115 USA

[28] Sungkyunkwan Univ, Sch Med, Seoul, South Korea

[29] Univ N Carolina, Dept Genet, Chapel Hill, NC 27599 USA

[30] Univ N Carolina, Dept Med, Div Hematol & Oncol, Chapel Hill, NC 27599 USA

[31] Baylor Coll Med, Dept Med, Houston, TX 77030 USA

[32] Korea Inst Sci & Technol Informat, Natl Inst Supercomp & Networking, Taejon, South Korea

[33] Yale Univ, Sch Med, Dept Urol, New Haven, CT 06520 USA

来源：

CANCER CELL | 2014年 / 26卷 / 03期

基金：

美国国家科学基金会;

关键词：

HOGG-DUBE-SYNDROME; MITOCHONDRIAL-DNA MUTATIONS; TERT PROMOTER MUTATIONS; HUMAN BREAST-TUMORS; COMPLEX-I; CANCER GENOME; MOLECULAR PORTRAITS; KIDNEY CANCER; ONCOCYTOMA; CHROMOSOME-10;

D O I：

10.1016/j.ccr.2014.07.014

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

We describe the landscape of somatic genomic alterations of 66 chromophobe renal cell carcinomas (ChRCCs) on the basis of multidimensional and comprehensive characterization, including mtDNA and whole-genome sequencing. The result is consistent that ChRCC originates from the distal nephron compared with other kidney cancers with more proximal origins. Combined mtDNA and gene expression analysis implicates changes in mitochondrial function as a component of the disease biology, while suggesting alternative roles for mtDNA mutations in cancers relying on oxidative phosphorylation. Genomic rearrangements lead to recurrent structural breakpoints within TERT promoter region, which correlates with highly elevated TERT expression and manifestation of kataegis, representing a mechanism of TERT upregulation in cancer distinct from previously observed amplifications and point mutations.

引用

页码：319 / 330

页数：12

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