Hereditary leiomyomatosis and renal cell carcinoma

Hereditary leiomyomatosis and renal cell carcinoma (HLRCC) is a recently identified autosomal dominant tumour susceptibility syndrome.

It is characterised by:

  • predisposition to benign cutaneous and uterine leiomyomas (fibroids, myomas)
  • susceptibility to early-onset renal cell carcinoma  
    • typically solitary and aggressive tumours where histological types include papillary type 2 or collecting duct types
  • susceptibility to uterine leiomyosarcoma
    • in a subset of families 

Pathology

Genetics

Mutations in the gene fumarate hydratase (fumarase, FH) has been identified as the responsible underlying mechanism.

See also

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Article Information

rID: 21450
System: Urogenital
Tags: cases, refs
Synonyms or Alternate Spellings:
  • Hereditory leiyomyomata renal cell cancer syndrome
  • Hereditary leiomyomatosis and renal cell cancer (HLRCC)
  • Hereditary leiomyomatosis and renal cell cancer

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