Hereditary leiomyomatosis and renal cell cancer (HLRCC)

Maija Ht Kiuru, Virpi Launonen

Research output: Contribution to journalReview articlepeer-review

48 Scopus citations


Hereditary leiomyomatosis and renal cell cancer (HLRCC) (MIM 605839) is a recently identified autosomal dominant tumor susceptibility syndrome characterized by predisposition to benign leiomyomas of the skin and the uterus (fibroids, myomas). Susceptibility to early-onset renal cell carcinoma and uterine leiomyosarcoma is present in a subset of families. Renal cell carcinomas are typically solitary and aggressive tumors displaying papillary type 2 or collecting duct histology. The disease predisposing gene was identified as fumarate hydratase (fumarase, FH) (MIM 136850). FH encodes an enzyme that operates in the mitochondrial Krebs cycle being thus involved in cellular energy metabolism. The recent discovery of HLRCC and the predisposing gene FH has increased the present knowledge of hereditary renal cancer and enabled identification of the predisposed individuals. This review provides the present knowledge of the clinical, histopathological, and molecular features of HLRCC. Future prospects related to studies on the phenotype and molecular biology of HLRCC will also be discussed.

Original languageEnglish (US)
Pages (from-to)869-875
Number of pages7
JournalCurrent Molecular Medicine
Issue number8
StatePublished - Dec 2004
Externally publishedYes


  • FH
  • Fumarase
  • Leiomyoma
  • Leiomyosarcoma
  • Renal cancer

ASJC Scopus subject areas

  • Biochemistry
  • Molecular Medicine
  • Molecular Biology


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