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Review Case Reports
Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC): Report of a Family Pedigree.
- Grace Choi, Virginia Kimonis, Katherine Hall, and Wei Ling Lau.
- Division of Nephrology, Department of Medicine, University of California (GC, WLL), Irvine, CA.
- Am. J. Med. Sci. 2020 Dec 1; 360 (6): 724727724-727.
AbstractHereditary leiomyomatosis and renal cell cancer (HLRCC) is a rare familial cancer syndrome with a germline mutation in the fumarate hydratase gene. Affected individuals are predisposed to development of cutaneous leiomyomas, uterine leiomyomas, and papillary renal cell carcinoma. We present a case of a mother and son pair affected with HLRCC, discuss clinical management, and examine potential syndromic manifestations in extended family members. Annual imaging surveillance for kidney cancer is recommended since 20-30% of individuals develop aggressive papillary type II renal cell carcinoma that can be difficult to treat once it has metastasized.Copyright © 2020 Southern Society for Clinical Investigation. Published by Elsevier Inc. All rights reserved.
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