12-Year-Old Girl Diagnosed With Li-Fraumeni Syndrome and Concomitant Adrenocortical Carcinoma (ACC).

Autor: Donato UM Jr; Pediatric Hematology Oncology, University of South Florida Morsani College of Medicine, Tampa, USA., Torres D; Medicine, Universidad de Puerto Rico, San Juan, PRI., Galligan A; Pediatric Oncology, Moffitt Cancer Center, Tampa, USA.; Pediatric Hematology Oncology, University of South Florida Morsani College of Medicine, Tampa, USA.
Jazyk: angličtina
Zdroj: Cureus [Cureus] 2022 Oct 29; Vol. 14 (10), pp. e30836. Date of Electronic Publication: 2022 Oct 29 (Print Publication: 2022).
DOI: 10.7759/cureus.30836
Abstrakt: Adrenocortical carcinomas (ACC) are classical presentations of germline cancer predisposition syndromes such as the Li-Fraumeni syndrome (LFS). Li-Fraumeni syndrome is a multiple cancer syndrome caused by germline alterations of the tumor protein 53 (TP53) tumor suppressor gene and is often associated with ACC. If minor adrenocortical tumors (ACTs) are detected early, resection has proven to provide patients with better outcomes. However, non-functioning ACCs are particularly insidious since these patients present late and with distant metastases. We present the case of a 12-year-old female with a history of Li-Fraumeni syndrome (LFS) and a non-hormone-secreting ACC in the context of an exceedingly rare c.743G>A (p.Arg248Gln) p53 mutation.
Competing Interests: The authors have declared that no competing interests exist.
(Copyright © 2022, Donato et al.)
Databáze: MEDLINE