Conventional renal cancer in a patient with fumarate hydratase mutation.

  title={Conventional renal cancer in a patient with fumarate hydratase mutation.},
  author={Heli J. Lehtonen and Ignacio Blanco and Jose M. Piulats and Riitta Herva and Virpi Launonen and Lauri A. Aaltonen},
  journal={Human pathology},
  volume={38 5},
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… CONTINUE READING