临床与实验病理学杂志2025，Vol.41Issue(9)：1121-1127,7.DOI:10.13315/j.cnki.cjcep.2025.09.001
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
Emphasize the recognition and pathological diagnosis hereditary tumor predisposi-tion syndromes of the central nervous system
摘要
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.关键词
遗传性肿瘤易患综合征/中枢神经系统/NF1/NF2/Lynch综合征Key words
hereditary tumor predisposition syndrome/central nervous system/NF1/NF2/Lynch syndrome分类
医药卫生引用本文复制引用
姚志刚,滕梁红..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[J].临床与实验病理学杂志,2025,41(9):1121-1127,7.基金项目
济南市临床医学科技创新计划(202430059) （202430059）
北京市临床重点专科建设项目 Jinan Clinical Medical Science and Technology Innovation Program(202430059) （202430059）
Beijing Clinical Key Specialized Construction Projects （）
