Cancer Research Infection and Cancer: Biology, Therapeutics, and Prevention AACR Conference on Molecular Diagnostics - 2008
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[Cancer Research 62, 4554-4557, August 15, 2002]
© 2002 American Association for Cancer Research

Advances in Brief

Few FH Mutations in Sporadic Counterparts of Tumor Types Observed in Hereditary Leiomyomatosis and Renal Cell Cancer Families1

Maija Kiuru2, Rainer Lehtonen2, Johanna Arola, Reijo Salovaara, Heikki Järvinen, Kristiina Aittomäki, Jari Sjöberg, Tapio Visakorpi, Sakari Knuutila, Jorma Isola, Brett Delahunt, Riitta Herva, Virpi Launonen, Auli Karhu and Lauri A. Aaltonen3

Departments of Medical Genetics [M. K., R. L., R. S., K. A., S. K., V. L., A. K., L. A. A.] and Pathology [J. A., R. S.], Biomedicum Helsinki or Haartman Institute, University of Helsinki, FIN-00014 Helsinki, Finland; Departments of Surgery [H. J.] and Obstetrics and Gynecology [J. S.], Helsinki University Central Hospital, FIN-00290 Helsinki, Finland; Institute of Medical Technology, University of Tampere and Tampere University Hospital, FIN-33014 Tampere, Finland [T. V., J. I.]; Department of Pathology, University of Otago, Wellington, New Zealand [B. D.]; and Department of Pathology, Oulu University Hospital, FIN-90220 Oulu, Finland [R. H.]

Loss of function mutations in the fumarate hydratase (fumarase, FH) gene were recently identified as the cause for dominantly inherited uterine and cutaneous leiomyomas and renal cell cancer. To further evaluate the role of FH in tumorigenesis, we screened FH mutations from tumor types seen in hereditary leiomyomatosis and renal cell cancer mutation carriers—41 uterine and 10 cutaneous leiomyomas, 52 renal cell carcinomas, 53 sarcomas, 29 prostate carcinomas, and 15 lobular breast carcinomas. Few mutations were detected. Biallelic inactivation of FH was found in one uterine leiomyosarcoma, one cutaneous leiomyoma, and one soft tissue sarcoma. Whereas the two former lesions were shown to originate from a germ-line mutation, the soft tissue sarcoma is to our knowledge the first example of purely somatic inactivation of FH in tumors.




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