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

作者：Koski Taru A; Lehtonen Heli J; Jee Kowan J; Ninomiya Shinsuke; Joosse Simon A; Vahteristo Pia; Kiuru Maija; Karhu Auli; Sammalkorpi Heli; Vanharanta Sakari; Lehtonen Rainer; Edgren Henrik; Nederlof Petra M; Hietala Marja; Aittomaki Kristiina; Herva Riitta; Knuutila Sakari; Aaltonen Lauri A; Launonen Virpi^*

来源：Genes, Chromosomes and Cancer, 2009, 48(7): 544-551.

DOI：10.1002/gcc.20663

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.

• 出版日期2009-7