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

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

Research output: Contribution to journalArticle

20 Scopus citations

Abstract

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 11 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.

Original languageEnglish (US)
Pages (from-to)544-551
Number of pages8
JournalGenes Chromosomes and Cancer
Volume48
Issue number7
DOIs
StatePublished - Jul 2009
Externally publishedYes

ASJC Scopus subject areas

  • Genetics
  • Cancer Research

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    Koski, T. A., Lehtonen, H. J., Jee, K. J., Ninomiya, S., Joosse, S. A., Vahteristo, P., Kiuru, M. H., Karhu, A., Sammalkorpi, H., Vanharanta, S., Lehtonen, R., Edgren, H., Nederlof, P. M., Hietala, M., Aittomäki, K., Herva, R., Knuutila, S., Aaltonen, L. A., & Launonen, V. (2009). Array comparative genomic hybridization identifies a distinct DNA copy number profile in renal cell cancer associated with hereditary leiomyomatosis and renal cell cancer. Genes Chromosomes and Cancer, 48(7), 544-551. https://doi.org/10.1002/gcc.20663