Emphasize the recognition and pathological diagnosis hereditary tumor predisposi-tion syndromes of the central nervous system
10.13315/j.cnki.cjcep.2025.09.001
- VernacularTitle:重视中枢神经系统遗传性肿瘤易患综合征的识别和病理诊断
- Author:
Zhigang YAO
1
;
Lianghong TENG
Author Information
1. 山东第一医科大学附属省立医院病理科,济南 250021
- Publication Type:Journal Article
- Keywords:
hereditary tumor predisposition syndrome;
central nervous system;
NF1;
NF2;
Lynch syndrome
- From:
Chinese Journal of Clinical and Experimental Pathology
2025;41(9):1121-1127
- CountryChina
- Language:Chinese
-
Abstract:
Hereditary tumor predisposition syndromes of the central nervous system(CNS)are a group of genetic disorders caused by germline mutations,which significantly increase the risk of CNS tumors in carriers.However,awareness of these syndromes remains limited in current clinical and pathological practice,leading to a high risk of un-derdiagnosis and missdiagnosis.Pathologists should integrate clinical history,family history,tumor morphology,and molecular testing results to identify underlying hereditary tumor predisposition syndromes.This approach not only helps assess multi-organ tumor risks and guide personalized treatment but also enables early intervention through genetic counseling and testing for family members,ultimately improving patient outcomes and aiding in disease prevention and reproductive decision-making.
