First case of endometrial cancer after yolk sac tumor in a patient with Li-Fraumeni syndrome.

ABSTRACT:

Background

Li-Fraumeni syndrome (LFS) is a rare autosomal dominant disease with high penetrance caused by a germline variant of TP53 gene. We report the first case of endometrial cancer after yolk sac tumor with LFS.

Case presentation

The presented female patient underwent right adnexectomy at age 23 because of a yolk sac tumor of the ovary. At the age of 27, the patient was diagnosed with endometrial adenocarcinoma, received cytoreductive surgery and chemotherapy. Given that her personal cancer history along with a strong family history of cancer, her father passing away from lung cancer at age 48 and her grandmother dying of ovarian cancer at age 50, the patient was referred for genetic counseling and testing. Genetic screening revealed a heterozygous pathogenic TP53 c.844

SUBMITTER: Ye QL 

PROVIDER: S-EPMC10286347 | biostudies-literature | 2023 Jun

REPOSITORIES: biostudies-literature