Research progress on tumors associated with Li-Fraumeni syndrome
10.13315/j.cnki.cjcep.2025.03.015
- VernacularTitle:Li-Fraumeni综合征相关肿瘤及研究进展
- Author:
Shiqi ZHENG
1
;
Huiru HAN
1
;
Lu JU
1
;
Guotao REN
1
;
Ruifen WANG
1
;
Lifeng WANG
1
Author Information
1. 上海交通大学医学院附属新华医院病理科,上海 200092
- Publication Type:Journal Article
- Keywords:
Li-Fraumeni syndrome;
TP53 germline mutation;
genetic testing;
prognosis;
literature review
- From:
Chinese Journal of Clinical and Experimental Pathology
2025;41(3):369-373,379
- CountryChina
- Language:Chinese
-
Abstract:
Li-Fraumeni syndrome(LFS)is a rare autosomal dominant genetic disorder.Patients with LFS tend to develop tumors at a young age and are at risk of multiple types of cancer.The core pathogenic mechanism of LFS is germline mutation of the TP53 gene,which leads to loss of function of the p53 protein and an increase in the risk of tumor development.There are many tumor types closely related to LFS,including soft tissue sarcoma,osteosarcoma,brain tumors,breast cancer,and adrenocortical carcinoma.Although some common mutation sites of the TP53 gene in LFS patients have been identified,there are still differences in mutation sites among different patients,and the type of TP53 gene mutation may affect the clinical manifestations and prognosis of patients.Therefore,genetic testing for LFS patients to determine the specific mutation form of TP53 is of great significance.This article reviews the clinical patho-logical characteristics,treatment methods,and prognosis of LFS-related tumor patients,aiming to provide useful refer-ences for clinical practice.
