USF-LVHN SELECT

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

Publication/Presentation Date

10-1-2022

Abstract

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.

Volume

14

Issue

10

First Page

30836

Last Page

30836

ISSN

2168-8184

Disciplines

Medical Education | Medicine and Health Sciences

PubMedID

36457625

Department(s)

USF-LVHN SELECT Program, USF-LVHN SELECT Program Students

Document Type

Article

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