Ovarian malignant melanoma arising from mature teratoma in a woman with Li-Fraumeni syndrome: a case report

Abstract

　As a phenotype of Li-Fraumeni syndrome (LFS), extracutaneous malignant melanoma is rare. In this case, we estimated LFS based on the family history of a female patient who developed ovarian malignant melanoma at the age of 24 and performed genetic testing to confirm the diagnosis. This patient first visited the hospital with a chief complaint of constipation, and her mother had a history of breast cancer when she was 15 years old. CT scan revealed a 13 cm cystic tumor in the pelvis. We performed bilateral salpingo-oophorectomy, and the diagnosis was malignant melanoma derived from the epithelial component of a mature teratoma. We detected TP53 missense variant c.476C>T (p.Ala159Val) by cancer genome profiling with tumor tissue while searching for therapeutic drugs and determined this variant to be pathogenic. She, her mother, and one of his three siblings were diagnosed with LFS by subsequent single-site confirmatory testing using blood samples. This patient did not meet the existing recommended criteria for TP53 testing, and we felt that it would be difficult to diagnose patients with non-core LFS tumors, so we here present her case report to share the information.