Array comparative genomic hybridization identifies a distinct DNA copy number profile in renal cell cancer associated with hereditary leiomyomatosis and renal cell cancer

Taru Annukka Koski, Heli J Lehtonen, Kowan Ja Jee, Shinsuke Ninomiya, Simon A Joosse, Pia Vahteristo, Maija Kiuru, Auli Karhu, Heli Sammalkorpi, Sakari Vanharanta, Rainer Lehtonen, Sten Henrik Torstensson Edgren, Petra M Nederlof, Marja Hietala, Kristiina Aittomäki, Riitta Herva, Sakari Knuutila, Lauri A Aaltonen, Virpi Launonen

Research output: Contribution to journalArticleScientificpeer-review


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.
Original languageEnglish
JournalGenes, Chromosomes & Cancer
Issue number7
Pages (from-to)544-551
Number of pages8
Publication statusPublished - 2009
MoE publication typeA1 Journal article-refereed

Fields of Science

  • 311 Basic medicine

Cite this