Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC): Report of a Family Pedigree.
HLRCC
Hereditary leiomyomatosis and renal cell cancer
Reed's syndrome
Journal
The American journal of the medical sciences
ISSN: 1538-2990
Titre abrégé: Am J Med Sci
Pays: United States
ID NLM: 0370506
Informations de publication
Date de publication:
12 2020
12 2020
Historique:
received:
28
12
2019
revised:
19
05
2020
accepted:
29
05
2020
pubmed:
25
7
2020
medline:
30
12
2020
entrez:
25
7
2020
Statut:
ppublish
Résumé
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.
Identifiants
pubmed: 32703534
pii: S0002-9629(20)30242-1
doi: 10.1016/j.amjms.2020.05.048
pii:
doi:
Types de publication
Case Reports
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
724-727Informations de copyright
Copyright © 2020 Southern Society for Clinical Investigation. Published by Elsevier Inc. All rights reserved.