Hereditary Leiomyomatosis and Renal Cell Carcinoma (HLRCC) is a hereditary condition which typically presents with cutaneous and uterine leiomyomata. Papillary type II renal cell carcinoma and other less common histologic subtypes of renal cancer have been reported in HLRCC. We describe the case of a 31-year-old man in which the pathology review of his renal carcinoma and a positive family history of renal carcinoma allowed for the identification of a pathogenic mutation in the FH gene (c.698G>A;p.R233H) confirming the diagnosis of HLRCC. Recognition of this syndrome allowed for appropriate surveillance as well as identification of at-risk family members. Pathology review is essential for accurate diagnosis of a hereditary cancer syndrome in the setting of familial renal cancer.
Written by:
Raymond VM, Herron CM, Giordano TJ, Gruber SB. Are you the author?
Department of Internal Medicine, University of Michigan, Ann Arbor, MI, 48109-2200, USA.
Reference: Fam Cancer. 2011 Nov 30. Epub ahead of print.
doi: 10.1007/s10689-011-9485-3
PubMed Abstract
PMID: 22127509
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