Article
Hereditary leiomyomatosis and renal cell cancer presenting as metastatic kidney cancer at 18 years of age: implications for surveillance.
Familial cancer - 1 Mar 2012
van Spaendonck-Zwarts Karin Y, Badeloe Sadhanna, Oosting Sjoukje F, Hovenga Sjoerd, Semmelink Harry J F, van Moorselaar R Jeroen A, van Waesberghe Jan Hein, Mensenkamp Arjen R, Menko Fred H
Abstract excerpt
Hereditary leiomyomatosis and renal cell cancer (HLRCC) is an autosomal dominant syndrome characterized by skin piloleiomyomas, uterine leiomyomas and papillary type 2 renal cancer caused by germline mutations in the fumarate hydratase (FH) gene. Previously, we proposed renal imaging for FH mutation carriers starting at the age of 20 years. However, recently an 18-year-old woman from a Dutch family with HLRCC...
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