摘要
目的 探讨成人1p/19q未共缺失的“少突胶质细胞瘤”中的临床病理特征与及其他分子标记物相关性。方法 收集326例手术切除后组织病理诊断为少突胶质细胞瘤、间变少突胶质细胞瘤、少突-星形细胞瘤及间变少突-星形细胞瘤的病例。采用荧光原位杂交(FISH)检测1p/19q的共缺失状态,采用直接测序法检测IDH1/2、TP53、TERT启动子突变状态,采用免疫组化染色检测ATRX、PDGFRA、EGFR、 CIC、FUBP1、INA、PTEN表达水平,采用甲基化特异性PCR(MSP)方法检测(MGMT)甲基化水平。结果 326例成人少突胶质细胞瘤的1p/19q状态检测结果为37.6%的肿瘤1p/19q未共缺失,超过一半的1p/19q未共缺失的“少突胶质细胞瘤”缺乏星形细胞特征性标记物p53和ATRX表达。1p/19q未共缺失的“少突胶质细胞瘤”队列中,年龄较小(<45岁)、WHO 2级和典型少突胶质细胞瘤组织形态学的患者,预后较好(P <0.01),典型少突胶质细胞瘤组织形态学与TERTp突变状态、p53表达、EFGR表达、PDGFRA表达相关(P <0.05)。FUBP1、TERT、MGMT、PDGFRA、EGFR、PTEN、INA和CIC的表达未检测到显著的预后价值(P> 0.05)。结论 依据2021年第5版WHO中枢神经系统肿瘤分类,星形细胞瘤不能解释所有的1p/19q未共缺失的“少突胶质肿瘤”,1p/19q未共缺失的“少突胶质细胞瘤”可能形成弥漫性胶质瘤的一个不同亚群。
Objective To investigate the clinicopathologic and other molecular markers features of oligodendrogliomas in adults with non-codeletion of 1p/19q.Methods 326 cases of oligodendrogliomas,anaplastic oligodendrogliomas,oligoastrocytomas,and anaplastic oligoastrocytomas diagnosed by histopathology after surgical resection were collected.The polymorphism of chromosome 1pand 19qwere analyzed by fluorescence in situ hybridization(FISH).Isocitrate dehydrogenase(IDH)1/2 mutation,TP53 and promoter of telomerase reverse transcriptase(TERTp)were detected by Sanger sequencing.The expression levels of ATRX,PDGFRA,EGFR,CIC,FUBP1,INA,and PTEN were detected by immunohistochemical staining,and methylation specific PCR(MSP)was used to detect the methylation of MGMT promotor.Results The 1p/19q status of 326 adult oligodendrogliomas showed that 37.6%of the tumors were 1p/19qnon-codeletion,and more than half of the 1p/19q non-codeleted oligodendrogliomas showed lack of expression of p53 and ATRX,the defining astrocytic markers.In the cohort of 1p/19q non-codeleted"oligodendrogliomas",patients with younger age(<45 years),WHO grade 2,and typical oligodendroglioma histomorphology had a better prognosis(P<0.01),and the typical histomorphology of oligodendrogliomas was associated with TERTp mutation status,p53 expression,EFGR expression,PDGFRA expression(P<0.05).The expression of FUBP1,TERT,MGMT,PDGFRA,EGFR,PTEN,INA,and CIC was not found to have significant prognostic value(P>0.05).Conclusion According to the 5th edition of the 2021 WHO Classification of Tumors of the Central Nervous System,astrocytomas do not account for all 1p/19q non-codeleted oligodendrogliomas,and 1p/19q non-codeleted oligodendrogliomas may represent a distinct subgroup of diffuse gliomas.
作者
李林耘
李宗芳
苏国苗
刘士岳
李彦熙
LI Linyun;LI Zongfang;SU Guomiao;LIU Shiyue;LI Yanxi(Dept.of Radiology,The 1st Affiliated Hospital of Kunming Medical University,Kunming Yunnan 650032,China;Dept.of Pathology,The 1st Affiliated Hospital of Kunming Medical University,Kunming Yunnan 650032,China)
出处
《昆明医科大学学报》
CAS
2024年第8期7-16,共10页
Journal of Kunming Medical University
基金
云南省科技厅科技计划基金资助项目(202001AY070001-145)。
