Parth Patel, Adam Vinall, Umesh Boregowda, Shuhaib Ali, Apeksha Agarwal, Courtney Thomas, Patrick Snyder, Alexis Pavle
ABSTRACT Li-Fraumeni syndrome (LFS) is a rare disorder that greatly increases the risk of adrenocortical carcinoma, breast cancer, central nervous system tumors, osteosarcoma, and soft tissue sarcomas. Leiomyosarcoma (LMS) is an aggressive soft tissue sarcoma arising from smooth muscle cells, most often in the uterus, gastrointestinal tract, and blood vessels. A 27-year-old man with a history of LFS presented with dark stool and epigastric tenderness. Biopsy during upper endoscopy revealed a high-grade LMS. To our knowledge, this is a rare presentation of gastric LMS in a LFS patient, expanding the spectrum of malignancies associated with the syndrome.