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Clinical Features of Li-Fraumeni Syndrome in Korea.

Authors
  • Song, Ran1
  • Kong, Sun-Young2
  • Choi, Wonyoung3
  • Lee, Eun-Gyeong1
  • Woo, Jaeyeon1
  • Han, Jai Hong1
  • Lee, Seeyoun1
  • Kang, Han-Sung1
  • Jung, So-Youn1
  • 1 Department of Surgery, Center of Breast Cancer, National Cancer Center, Goyang, Korea. , (North Korea)
  • 2 Department of Laboratory Medicine, National Cancer Center, Goyang, Korea. , (North Korea)
  • 3 Center of Rare Cancers, National Cancer Center, Goyang, Korea. , (North Korea)
Type
Published Article
Journal
Cancer research and treatment
Publication Date
Jan 01, 2024
Volume
56
Issue
1
Pages
334–341
Identifiers
DOI: 10.4143/crt.2023.794
PMID: 37562436
Source
Medline
Keywords
Language
English
License
Unknown

Abstract

Li-Fraumeni syndrome (LFS) is a hereditary disorder caused by germline mutation in TP53. Owing to the rarity of LFS, data on its clinical features are limited. This study aimed to evaluate the clinical characteristics and prognosis of Korean patients with LFS. Patients who underwent genetic counseling and confirmed with germline TP53 mutation in the National Cancer Center in Korea between 2011 and 2022 were retrospectively reviewed. Data on family history with pedigree, types of mutation, clinical features, and prognosis were collected. Fourteen patients with LFS were included in this study. The median age at diagnosis of the first tumor was 32 years. Missense and nonsense mutations were observed in 13 and one patients, respectively. The repeated mutations were p.Arg273His, p.Ala138Val, and pPro190Leu. The sister with breast cancer harbored the same mutation of p.Ala138Val. Seven patients had multiple primary cancers. Breast cancer was most frequently observed, and other types of tumor included sarcoma, thyroid cancer, pancreatic cancer, brain tumor, adrenocortical carcinoma, ovarian cancer, endometrial cancer, colon cancer, vaginal cancer, skin cancer, and leukemia. The median follow-up period was 51.5 months. Two and four patients showed local recurrence and distant metastasis, respectively. Two patients died of leukemia and pancreatic cancer 3 and 23 months after diagnosis, respectively. This study provides information on different characteristics of patients with LFS, including types of mutation, types of cancer, and prognostic outcomes. For more appropriate management of these patients, proper genetic screening and multidisciplinary discussion are required.

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