hereditary leiomyomatosis and renal cell carcinoma

Hereditary leiomyomatosis and renal cell carcinoma (HLRCC), also known as Reed syndrome, is an autosomal dominant tumor susceptibility syndrome.


It is characterized by:

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

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

See also

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