Tricuspid mass-curious case of Li-Fraumeni syndrome: A letter to the editor

Abstract

We focus specifically on the rare occurrence of cardiac thrombi in Li-Fraumeni syndrome (LFS). LFS is a hereditary risk to a diverse range of specific, uncommon, malignancies. Children and young adults have a heightened susceptibility to many malignancies, particularly soft-tissue and bone tumors, breast malignancies, central nervous system malignancies, adrenocortical carcinoma, and blood cancers. Additionally, LFS patients may experience other cancer types such as gastrointestinal, lung, kidney, thyroid, and skin cancers, along with those affecting gonadal organs (ovaries, testicles, and prostate). An accurate diagnosis of LFS is crucial to enable affected families to access appropriate genetic counseling and undergo surveillance for early cancer detection.

Keywords: Li-Fraumeni syndrome; Cancers; Cardiac thrombus; Genetic counseling; Surveillance

Core Tip: Li-Fraumeni syndrome (LFS) is an inherited propensity to various distinct, frequently uncommon malignancies. Pediatric and adolescent age groups are more likely to acquire many malignancies, including soft-tissue and bone tumors, breast cancer, central nervous system cancers, adrenocortical carcinoma, and blood cancers. LFS individuals may also develop various types of cancer, including gastrointestinal, lung, kidney, thyroid, and skin cancers, as well as those affecting the gonadal organs. An accurate diagnosis of LFS is critical for afflicted families to receive appropriate genetic counseling and be monitored for early cancer detection.