Article
Hereditary leiomyomatosis and renal cell carcinoma syndrome-associated renal cancer: recognition of the syndrome by pathologic features and the utility of detecting aberrant succination by immunohistochemistry.
The American journal of surgical pathology - 1 May 2014
Chen Ying-Bei, Brannon A Rose, Toubaji Antoun, Dudas Maria E, Won Helen H, Al-Ahmadie Hikmat A, Fine Samson W, Gopalan Anuradha, Frizzell Norma, Voss Martin H, Russo Paul, Berger Michael F, Tickoo Satish K, Reuter Victor E
Abstract excerpt
Hereditary leiomyomatosis and renal cell carcinoma (HLRCC) syndrome is an autosomal dominant disorder in which germline mutations of fumarate hydratase (FH) gene confer an increased risk of cutaneous and uterine leiomyomas and renal cancer. HLRCC-associated renal cancer is highly aggressive and frequently presents as a solitary mass. We reviewed the clinicopathologic features of 9 patients with renal tumors...
Topics
- Adult
- Carcinoma, Renal Cell
- Female
- Fumarate Hydratase
- Genetic Predisposition to Disease
- Germ-Line Mutation
- Humans
- Immunohistochemistry
- Kidney Neoplasms