Research Articles

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

  1. Taru A. Koski1,
  2. Heli J. Lehtonen1,
  3. Kowan J. Jee2,
  4. Shinsuke Ninomiya2,
  5. Simon A. Joosse3,
  6. Pia Vahteristo1,
  7. Maija Kiuru1,
  8. Auli Karhu1,
  9. Heli Sammalkorpi1,
  10. Sakari Vanharanta1,
  11. Rainer Lehtonen1,
  12. Henrik Edgren4,5,
  13. Petra M. Nederlof3,
  14. Marja Hietala6,
  15. Kristiina Aittomäki1,7,
  16. Riitta Herva8,
  17. Sakari Knuutila2,
  18. Lauri A. Aaltonen1,
  19. Virpi Launonen1,*

Article first published online: 16 APR 2009

DOI: 10.1002/gcc.20663

Issue

Genes, Chromosomes and Cancer

Genes, Chromosomes and Cancer

Volume 48, Issue 7, pages 544–551, July 2009

Additional Information

How to Cite

Koski, T. A., Lehtonen, H. J., Jee, K. J., Ninomiya, S., Joosse, S. A., Vahteristo, P., Kiuru, M., Karhu, A., Sammalkorpi, H., Vanharanta, S., Lehtonen, R., Edgren, H., Nederlof, P. M., Hietala, M., Aittomäki, K., Herva, R., Knuutila, S., Aaltonen, L. A. and 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: 544–551. doi: 10.1002/gcc.20663

Author Information

  1. 1

    Department of Medical Genetics, Biomedicum Helsinki, University of Helsinki, Helsinki, Finland

  2. 2

    Department of Pathology, Haartman Institute and HUSLAB, University of Helsinki and Helsinki University Central Hospital, Helsinki, Finland

  3. 3

    Department of Experimental Therapy, The Netherlands Cancer Institute, Amsterdam, The Netherlands

  4. 4

    Medical Biotechnology Centre, VTT Technical Research Centre of Finland, University of Turku, Turku, Finland

  5. 5

    Genome-Scale Biology Research Program, Biomedicum Helsinki, University of Helsinki, Helsinki, Finland

  6. 6

    Department of Medical Genetics, University of Turku and Turku University Hospital, Turku, Finland

  7. 7

    Department of Clinical Genetics, Helsinki University Central Hospital, Helsinki, Finland

  8. 8

    Department of Pathology, Oulu University Hospital, Oulu, Finland

*Department of Medical Genetics, Biomedicum Helsinki, University of Helsinki, PO Box 63 (Haartmaninkatu 8), FIN-00014, Finland

Publication History

  1. Issue published online: 6 MAY 2009
  2. Article first published online: 16 APR 2009
  3. Manuscript Accepted: 27 FEB 2009
  4. Manuscript Received: 16 NOV 2007

Funded by

  • European Commission. Grant Number: LSHC-CT-2005-518200
  • Academy of Finland. Grant Numbers: 213183, 214268, 212901
  • Center of Excellence in Translational Genome-Scale Biology
  • Sigrid Juselius Foundation
  • Cancer Society of Finland

SEARCH

SEARCH BY CITATION

ARTICLE TOOLS

View Full Article (HTML) Get PDF (450K)

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. © 2009 Wiley-Liss, Inc.

View Full Article (HTML) Get PDF (450K)