Abstract 5215: Clinical features of Li-Fraumeni syndrome in Korea

Abstract

Abstract Purpose: Li-Fraumeni syndrome (LFS) is a rare autosomal dominant hereditary disorder caused by a germline mutation in the TP53 gene. Because of the rarity of the disease, there were limited data on the types of the mutation, clinical features and treatment outcomes. The aim of this study is to evaluate the clinical characteristics and prognosis in Korean patients with germline TP53 gene mutation. Methods: Patients who underwent genetic counseling and confirmed with TP53 gene mutation in National Cancer Center in Korea between 2011 and 2022 were reviewed retrospectively. Data on family history with pedigree, types of mutation, clinical features and prognosis were collected. Results: Fourteen patients with LFS were included in the study. Missense mutations were shown in 13 cases and nonsense mutation in 1 case. The repeated mutations were p.Arg273His (n=2), p.Ala138Val (n=2) and pPro190Leu (n=2). A sister with breast cancer had the same mutation of p.Ala138Val. The median age at diagnosis of first tumor in 14 LFS patients was 32 (1-67) years. Seven patients (50%) had multiple primary cancers. Breast cancer was most frequently observed (n=9) and other types of tumor included sarcoma (n=5), thyroid cancer (n=3), pancreatic cancer (n=2), ovarian cancer (n=1), endometrial cancer (n=1), colon cancer (n=1), brain tumor (n=1), adrenocortical carcinoma (n=1), vaginal cancer (n=1), skin cancer (n=1) and leukemia (n=1). The median follow-up period was 51.5 (6-188) months. There were two cases of local recurrence and four cases of distant metastasis during the periods. Two patients died from leukemia and pancreatic cancer at three months and 23 months after diagnosis, respectively. Conclusion: As known in other countries, many Korean patients with LFS also had an early onset and multiple primary tumors. And patients showed various types of mutation, clinical features and prognostic outcomes. Further large-scale studies are required for proper screening and management in Korean patients with LFS. Grant: This study was supported by National cancer center, Korea, Grant no. 2110181 Citation Format: Ran Song, Seeyoun Lee, Jai Hong Han, Jae Yeon Woo, Min Jung Lee, Han-Sung Kang, Sunhwa Park, Eun-Gyeong Lee, Sun Young Kong, So-Youn Jung. Clinical features of Li-Fraumeni syndrome in Korea. [abstract]. In: Proceedings of the American Association for Cancer Research Annual Meeting 2023; Part 1 (Regular and Invited Abstracts); 2023 Apr 14-19; Orlando, FL. Philadelphia (PA): AACR; Cancer Res 2023;83(7_Suppl):Abstract nr 5215.