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Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC): Report of a Family Pedigree.
- Source :
-
The American journal of the medical sciences [Am J Med Sci] 2020 Dec; Vol. 360 (6), pp. 724-727. Date of Electronic Publication: 2020 Jun 03. - Publication Year :
- 2020
-
Abstract
- Hereditary 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.<br /> (Copyright © 2020 Southern Society for Clinical Investigation. Published by Elsevier Inc. All rights reserved.)
- Subjects :
- Adult
Carcinoma, Renal Cell etiology
Female
Humans
Leiomyomatosis complications
Leiomyomatosis genetics
Leiomyomatosis therapy
Male
Middle Aged
Neoplastic Syndromes, Hereditary complications
Neoplastic Syndromes, Hereditary genetics
Neoplastic Syndromes, Hereditary therapy
Pedigree
Skin Neoplasms complications
Skin Neoplasms genetics
Skin Neoplasms therapy
Syndrome
Uterine Neoplasms complications
Uterine Neoplasms genetics
Uterine Neoplasms therapy
Young Adult
Genetic Predisposition to Disease
Leiomyomatosis diagnosis
Neoplastic Syndromes, Hereditary diagnosis
Skin Neoplasms diagnosis
Uterine Neoplasms diagnosis
Subjects
Details
- Language :
- English
- ISSN :
- 1538-2990
- Volume :
- 360
- Issue :
- 6
- Database :
- MEDLINE
- Journal :
- The American journal of the medical sciences
- Publication Type :
- Academic Journal
- Accession number :
- 32703534
- Full Text :
- https://doi.org/10.1016/j.amjms.2020.05.048