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非典型脑膜瘤临床病理学与分子遗传学特征及复发风险分析

Clinicopathological and molecular genetic characteristics and recurrence risk of atypical meningioma
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摘要 目的探讨非典型脑膜瘤临床病理学与分子遗传学特征及复发风险。方法收集2021年至2023年在苏州大学附属第四医院(苏州市独墅湖医院)共10例非典型脑膜瘤病例进行研究,利用二代测序检测其分子遗传学特征,通过组织病理学与分子遗传学特征分析与复发风险相关的因素。结果10例非典型脑膜瘤组织学中有脑组织侵犯5例、核分裂象4~19/10HPF 5例、细胞密度增高8例、片状结构7例、核仁明显4例、高核浆比3例、自发性坏死2例。二代测序检测出CDKN2A/B纯合性缺失和杂合性缺失各1例,染色体22q缺失8例,1p缺失6例,10p/q、18p/q缺失各4例,6q、14p/q缺失各3例,3p、4p/q缺失、17q扩增各2例,19q缺失、5p/q扩增、20q扩增各1例,NF2突变7例,ARID1A突变2例,TRAF7、AKT1、KDM6A突变各1例。非典型脑膜瘤染色体1p与22q共缺失或染色体10p/q或18p/q缺失与复发有统计学差异(P<0.05),整合分级的级别与复发有统计学差异(P<0.05)。结论非典型脑膜瘤具有较多分子遗传学改变。非典型脑膜瘤染色体1p与22q共缺失或染色体10p/q或18p/q缺失可能提示复发风险较高。整合分级可能比组织学分级更好地评估非典型脑膜瘤复发风险。 Objective To investigate the clinicopathological and molecular genetic features of atypical meningioma and its recurrence risk.Methods A total of 10 cases of atypical meningioma were collected from the Fourth Affiliated Hospital of Soochow University(Suzhou Dushu Lake Hospital)from 2021 to 2023.The molecular genetic characteristics were detected by second-generation sequencing,and the factors related to recurrence risk were analyzed by histopathology and molecular genetic characteristics.Results Among the 10 cases of atypical meningiomas,there were 5 cases of brain tissue invasion,5 cases of high mitotic figures(4-19/10HPF),8 cases of increased cell density,7 cases of lamellar structure,4 cases of obvious nucleolus,3 cases of high nucleo-plasma ratio,and 2 cases of spontaneous necrosis.Second-generation sequencing detected 1 case of homozygous CDKN2A/B deletion and 1 case of heterozygous deletion,8 cases of 22q deletion,6 cases of 1p deletion,4 cases of 10p/q deletion,4 cases of 18p/q deletion,3 cases of 6q and 14p/q deletion,2 cases of 3p,4p/q deletion and 17q amplification,and 1 case of 19q deletion,5p/q amplification and 20q amplification.NF2 mutation was detected in 7 cases,ARID1A mutation in 2 cases,TRAF7,AKT1,KDM6A mutation in 1 case each.Co-deletion of chromosomes 1p and 22q or deletion of chromosome 10p/q or 18p/q were statistically associated with recurrence in atypical meningioma.There was a significant difference between the grade of integrated grading and recurrence(P<0.05).Conclusion Atypical meningioma has many molecular genetic changes.Co-deletion of chromosomes 1p and 22q or deletion of chromosome 10p/q or 18p/q in atypical meningioma may indicate a higher risk of recurrence.The integrated grade may be better than the histological grade in evaluating the recurrence risk of atypical meningiomas.
作者 江涛 赵静 熊丹婷 张紫荷 陈思 干文娟 JIANG Tao;ZHAO Jing;XIONG Danting;ZHANG Zihe;CHEN Si;GAN Wenjuan(Department of Pathology,the Fourth Affiliated Hospital of Soochow University(Suzhou Dushu Lake Hospital),Suzhou 215123,China;Suzhou Precision Medical Technology Co.,Ltd.,Suzhou 215000,China)
出处 《诊断病理学杂志》 2026年第1期84-90,共7页 Chinese Journal of Diagnostic Pathology
基金 国家自然科学基金面上项目(82373142) 苏州市科技计划项目(SZM2022014) 医疗卫生创新研究项目(CXYJ2024A09) 苏州工业园区卫生人才支持计划项目(YQWS202502)。
关键词 非典型脑膜瘤 分子遗传学 WHO分级 整合分级 复发风险 atypical meningioma molecular genetics WHO classification integrated classification recurrence risk

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