Hereditary Leiomyomatosis and Renal Cell Carcinoma (HLRCC)

HLRCC is an autosomal dominant disorder.

Signs and symptoms

  • Leiomyomata (benign tumours from smooth muscle tissue; singular: leiomyoma) characterise HLRCC. HLRCC leiomyomata occur on the skin and uterus. Skin (cutaneous) leiomyomata may resemble a rash; they are usually light brown or skin-coloured and appear on the trunk, extremities and face. They most commonly appear in the third decade of life. Uterine leiomyomata are also known as uterine fibroids, but these are prevalent in the general population and so are not sufficient for a HLRCC diagnosis. However, uterine leiomyomata tend to be numerous and large in women affected by HLRCC.
  • Increased risk of renal tumours; 10-16% of individuals with HLRCC develop renal tumours. Type 2 Papillary tumours are the most common, which can be very aggressive and may metastasise quickly. The tumours are often single rather than multi-focal. Tubulo-papillary and collecting duct renal cell carcinomas have also been indentified in HLRCC patients.
  • Increased risk of uterine leiomyosarcoma (cancerous tumours of smooth muscle tissue), but this seems to be very rare and the proportion of affected HLRCC patients is unknown. This cancer is aggressive if not treated early.

Diagnosis

  • An accurate diagnosis is available by genetic testing, as the fumerate hydratase (FH) gene has been associated with HLRCC.

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Publication date: September 2012
Review date: September 2015