title: Conventional renal cancer in a patient with fumarate hydratase mutation.
abstract: Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a tumor predisposition syndrome caused by mutations in the fumarate hydratase (FH) gene. HLRCC is characterized by uterine and cutaneous leiomyomas, renal cell cancer, and uterine leiomyosarcoma. Typically, renal cell cancers in HLRCC are unilateral and display a papillary type 2 or ductal histology. We describe here a 23-year-old patient carrying a novel FH mutation (N330S) with a bilateral renal cell center. Carcinoma of the right kidney showed papillary structure, but the left tumor was diagnosed as a conventional (clear cell) renal carcinoma, a type not previously described in HLRCC. The clear cell renal carcinoma also displayed loss of the normal FH allele and the FH immunostaining. Our finding extends the number of cases in which HLRCC can be suspected, and the FH immunohistochemistry may serve as a useful tool to screen for HLRCC in young individuals with clear cell renal carcinoma.
authors.affiliation: Department of Medical Genetics, Biomedicum Helsinki, University of Helsinki, Helsinki, Finland.
authors.forename: Heli J
authors.initials: HJ
authors.lastname: Lehtonen
authors.forename: Ignacio
authors.initials: I
authors.lastname: Blanco
authors.forename: Jose M
authors.initials: JM
authors.lastname: Piulats
authors.forename: Riitta
authors.initials: R
authors.lastname: Herva
authors.forename: Virpi
authors.initials: V
authors.lastname: Launonen
authors.forename: Lauri A
authors.initials: LA
authors.lastname: Aaltonen
mesh_terms: D000328:Adult; D001483:Base Sequence; D002292:Carcinoma, Renal Cell / Q000235:genetics* / Q000601:surgery; D005260:Female; D005649:Fumarate Hydratase / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D006801:Humans; D033162:Incidental Findings; D007680:Kidney Neoplasms / Q000235:genetics* / Q000601:surgery; D007889:Leiomyoma / Q000175:diagnosis; D009154:Mutation; D009378:Neoplasms, Multiple Primary / Q000175:diagnosis*; D014594:Uterine Neoplasms / Q000175:diagnosis*
chemical_list: D005649:Fumarate Hydratase