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

• Published in: BMC women's health 2023-06, Vol.23 (1), p.329-329, Article 329
• Main Authors: Ye, Qiu-Lin, Qi, Yue, Liu, Juan-Juan, Hu, Yue-Xin, Lv, Yuan, Lin, Bei
• Format: Article
• Language: English
• Subjects: Abdomen; Adult; Analysis; Care and treatment; Case Report; Case reports; CT imaging; Diagnosis; DNA damage; Endodermal Sinus Tumor - complications; Endodermal Sinus Tumor - genetics; Endometrial cancer; Endometrial Neoplasms - complications; Endometrial Neoplasms - genetics; Female; Genes, p53; Genetic aspects; Genetic Predisposition to Disease; Genetic screening; Genetics; Germ-Line Mutation; Health aspects; Humans; Li-Fraumeni syndrome; Li-Fraumeni Syndrome - complications; Li-Fraumeni Syndrome - diagnosis; Li-Fraumeni Syndrome - genetics; Lung cancer; Middle Aged; Ovarian cancer; Pathology; TP53; Tumor proteins; Tumors; Womens health; Yolk sac tumor; Young Adult
• ISSN: 1472-6874; 1472-6874
• DOI: 10.1186/s12905-023-02426-9

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. 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.844C > T, p.( R282 W) with NM_000546.5 variant, a class 5 (C5) variant. This is the first reported case of a yolk sac tumor accompanied by subsequent endometrial cancer that is associated with LFS. We reported a first case of an endometrial cancer after yolk sac tumor patient with a tumor family history of harboring the germline TP53 pathogenic variation which expanded types of tumor that can be presented in patients with LFS. This case highlights the importance of genetic testing for patients with malignant tumors, as well as patients with a family history of malignant tumors. And our case highlights the necessity of screening for gynecologic tumor in LFS patients.