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

Umberto M Donato Jr; Diego Torres; Andrew Galligan

doi:10.7759/cureus.30836

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

Cureus. 2022 Oct 29;14(10):e30836. doi: 10.7759/cureus.30836. eCollection 2022 Oct.

Authors

Umberto M Donato Jr¹, Diego Torres², Andrew Galligan^{3

1}

Affiliations

¹ Pediatric Hematology Oncology, University of South Florida Morsani College of Medicine, Tampa, USA.
² Medicine, Universidad de Puerto Rico, San Juan, PRI.
³ Pediatric Oncology, Moffitt Cancer Center, Tampa, USA.

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.

Keywords: li-fraumeni; pediatric oncology surgeon; pediatric solid tumours; s: adrenocortical carcinoma (acc); tp53 mutations.

Publication types

Case Reports