Array Comparative Genomic Hybridization Identifies a Distinct DNA Copy Number Profile in Renal Cell Cancer Associated with Hereditary Leiomyomatosis and Renal Cell Cancer

被引：23

作者：

Koski, Taru A. ^{[1
]}

Lehtonen, Heli J. ^{[1
]}

Jee, Kowan J. ^{[2
,3
,4
]}

Ninomiya, Shinsuke ^{[2
,3
,4
]}

Joosse, Simon A. ^{[5
]}

Vahteristo, Pia ^{[1
]}

Kiuru, Maija ^{[1
]}

Karhu, Auli ^{[1
]}

Sammalkorpi, Heli ^{[1
]}

Vanharanta, Sakari ^{[1
]}

Lehtonen, Rainer ^{[1
]}

Edgren, Henrik ^{[6
,7
]}

Nederlof, Petra M. ^{[5
]}

Hietala, Marja ^{[8
,9
]}

Aittomaki, Kristiina ^{[1
,10
]}

Herva, Riitta ^{[11
]}

Knuutila, Sakari ^{[2
,3
,4
]}

Aaltonen, Lauri A. ^{[1
]}

Launonen, Virpi ^{[1
]}

机构：

[1] Univ Helsinki, Dept Med Genet, Biomed Helsinki, FIN-00014 Helsinki, Finland

[2] Haartman Inst, Dept Pathol, Helsinki, Finland

[3] Univ Helsinki, HUSLAB, Helsinki, Finland

[4] Univ Helsinki, Cent Hosp, Helsinki, Finland

[5] Netherlands Canc Inst, Dept Expt Therapy, Amsterdam, Netherlands

[6] Univ Turku, Ctr Med Biotechnol, VTT Tech Res Ctr Finland, Turku, Finland

[7] Univ Helsinki, Genome Scale Biol Res Program, Biomed Helsinki, FIN-00014 Helsinki, Finland

[8] Univ Turku, Dept Med Genet, Turku, Finland

[9] Turku Univ Hosp, FIN-20520 Turku, Finland

[10] Univ Helsinki, Cent Hosp, Dept Clin Genet, FIN-00014 Helsinki, Finland

[11] Oulu Univ Hosp, Dept Pathol, Oulu, Finland

来源：

GENES CHROMOSOMES & CANCER | 2009年 / 48卷 / 07期

基金：

芬兰科学院;

关键词：

FUMARATE-HYDRATASE GENE; UTERINE LEIOMYOMATOSIS; MUTATIONS; CARCINOMA; TUMORS; GERMLINE; FH; ABNORMALITIES; CYTOGENETICS; EXPRESSION;

D O I：

10.1002/gcc.20663

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a tumor predisposition syndrome with cutaneous and uterine leiomyomatosis as well as renal cell cancer (RCC) as its clinical manifestations. HLRCC is caused by heterozygous germline mutations in the fumarate hydratase (fumarase) gene. In this study, we used array comparative genomic hybridization to identify the specific copy number changes characterizing the HLRCC-associated RCCs. The study material comprised formalin-fixed paraffin-embedded renal tumors obtained from Finnish patients with HLRCC. All I I investigated tumors displayed the papillary type 2 histopathology typical for HLRCC renal tumors. The most frequent copy number changes detected in at least 3/11 (27%) of the tumors were gains in chromosomes 2, 7, and 17, and losses in 13q12.3-q21.1, 14, 18, and X. These findings provide genetic evidence for a distinct copy number profile in HLRCC renal tumors compared with sporadic RCC tumors of the same histopathological subtype, and delineate chromosomal regions that associate with this very aggressive form of RCC. (C) 2009 Wiley-Liss, Inc.

引用

页码：544 / 551

页数：8

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