12-Year-Old Girl Diagnosed With Li-Fraumeni Syndrome and Concomitant Adrenocortical Carcinoma (ACC).
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.
Published In/Presented At
Donato, U. M., Jr, Torres, D., & Galligan, A. (2022). 12-Year-Old Girl Diagnosed With Li-Fraumeni Syndrome and Concomitant Adrenocortical Carcinoma (ACC). Cureus, 14(10), e30836. https://doi.org/10.7759/cureus.30836
Medical Education | Medicine and Health Sciences
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