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Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome


PITFALL

D efinition — A unique variant of uterine smooth muscle tumor associated with a genetically transmitted increased risk of renal cell carcinoma (RCC) (loss of heterozygosity [LOH] at 1q43).

Clinical Features

Epidemiology

  • The underlying defect is a germ-line heterozygous loss of function mutation in the fumarate hydratase gene with LOH at 1q43. Cases can be both germ-line and sporadic.

  • Patients typically (77%) present with leiomyomas, often at a young age.

  • The associated RCC is aggressive and often presents at a late stage.

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