Few FH mutations in sporadic counterparts of tumor types observed in hereditary leiomyomatosis and renal cell cancer families.

Abstract

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.

• Authors: Maija Kiuru, Rainer Lehtonen, Johanna Arola, Reijo Salovaara, Heikki Järvinen, Kristiina Aittomäki, Jari Sjöberg, Tapio Visakorpi, Sakari Knuutila, Jorma Isola, Brett Delahunt, Riitta Herva, Virpi Launonen, Auli Karhu, Lauri A Aaltonen
• Journal: Cancer research (Cancer Res) Vol. 62 Issue 16 Pg. 4554-7 (Aug 15 2002) ISSN: 0008-5472 [Print] United States
• PMID: 12183404 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Fumarate Hydratase

Topics

• Base Sequence
• Carcinoma, Renal Cell (enzymology, genetics)
• Female
• Fumarate Hydratase (genetics)
• Germ-Line Mutation
• Humans
• Kidney Neoplasms (enzymology, genetics)
• Leiomyoma (enzymology, genetics)
• Leiomyosarcoma (enzymology, genetics)
• Male
• Molecular Sequence Data
• Mutation, Missense
• Prostatic Neoplasms (enzymology, genetics)
• Skin Neoplasms (enzymology, genetics)
• Uterine Neoplasms (enzymology, genetics)