1号染色体短臂和19号染色体长臂联合性缺失检测对脑胶质瘤分型的影响  

Effect of 1p/19q chromosome association deletion detection on the classification of brain glioma

作　　者：王晶[1] 张震 张茂柏[2] 苏文[3] Wang jin;Zhang Zhen;Zhang Maobai;Su Wen(Department of Pathology,Shanxi Province Cancer Hospital,Shanxi Hospital Affiliated to Cancer Hospital,Chinese Academy of Medical Sciences,Cancer Hospital Affiliated to Shanxi Medical University Taiyuan,Shanxi 030013,China;Department of Neurosurgery,Shanxi Province Cancer Hospital,Shanxi Hospital Affiliated to Cancer Hospital,Chinese Academy of Medical Sciences,Cancer Hospital Affliated to Shanxi Medical University,Taiyuan,Shanxi 030013,China;Laboratory of Immunology,Shanxi Province Cancer Hospital,Shanxi Hospital Affiliated to Cancer Hospital,Chinese Academy of Medical Sciences,Cancer Hospital Affiliated to Shanxi Medical University,Taiyuan,Shanxi 030013,China)

机构地区：[1]山西省肿瘤医院、中国医学科学院肿瘤医院、山西医院山西医科大学附属肿瘤医院病理科,山西太原030013 [2]山西省肿瘤医院、中国医学科学院肿瘤医院、山西医院山西医科大学附属肿瘤医院神经外科,山西太原030013 [3]山西省肿瘤医院、中国医学科学院肿瘤医院、山西医院山西医科大学附属肿瘤医院免疫研究室,山西太原030013

出　　处：《实用医技杂志》2023年第10期685-688,共4页Journal of Practical Medical Techniques

基　　金：山西省卫生健康委资助青年课题(2019061);山西省科技厅山西省基础研究计划面上项目(202203021221283)。

摘　　要：目的研究加入1号染色体短臂和19号染色体长臂染色体(1p/19q)联合性缺失检测后的胶质瘤基因分型与传统形态学分型的差异。方法选取山西省肿瘤医院2016—2018年手术切除的胶质瘤71例为研究对象,制作4 mm直径组织芯片,运用荧光原位杂交(Fluorescence in situ hybridization,FISH)方法进行1p/19q联合性缺失检测。结果71例样本中15例结果不确定舍弃,剩余56例运用免疫组织化学法进行表皮生长因子受体(GFAP),少突胶质细胞系转录因子2(Olig2),异柠檬酸脱氢酶[IDH1(R132H)],6-甲基鸟嘌呤-DNA-甲基转移酶(MGMT),肿瘤抑制蛋白(P53),增殖活性相关的蛋白质(Ki-67)检测,形态学结合免疫组织化学结果诊断为少突胶质细胞瘤11例,非少突胶质细胞瘤(包括星形细胞瘤、胶质母细胞瘤及2例胶质肉瘤)45例。运用1p/19q FISH杂交检测诊断少突胶质细胞瘤21例,非少突胶质细胞瘤35例。统计学分析发现传统形态学分型与加入1p/19q染色体联合性缺失检测后的胶质瘤基因分型差异有统计学意义(P<0.05)。结论传统形态学分型易漏诊少突胶质细胞瘤,漏诊率达47.62%。1p/19q分子检测的加入大大提高了胶质瘤分型的准确性。Objective To study the differences between the genotyping of gliomas with the addition of combined chromosome 1p/19q deletion detection and conventional morphological typing.Methods Seven-one cases of gliomas surgically resected in Shanxi Provincial Cancer Hospital from^(2)016 to 2018 were selected as the study objects,and 4 mm diameter tissue microarrays were prepared,and Fluorescence in situ hybridization(FISH)was used to detect the combined sex deletion of the short arm of chromosome 1 and the long arm of chromosome 19(1p/19q).Results Among the 71 samples,15 cases were discarded with uncertain results,and the remaining 56 cases were detected with GFAP,Olig2,IDH1(R132H),MGMT,P53 and Ki-67 by immunohistochemistry,and 11 cases were diagnosed as oligodendroglioma by morphology and immunohistochemistry.There were 45 cases of non-oligodendroglioma(including astrocytoma,glioblastoma and 2 cases of gliosarcoma).A total of 21 cases of oligodendroglioma and 35 cases of non-oligodendroglioma were diagnosed by 1p/19q fluorescence in situ hybridization.Statistical analysis showed that there were statistically significant differences in the genotyping of gliomas between traditional morphological typing and 1p/19q combined deletion detection(P<0.05).Conclusion The conventional typing of oligodendroglioma is easy to miss the diagnose of oilgodendrogliomas,with a rate of 47.62%.The addition of 1p/19q molecular detection has greatly improved the accuracy of glioma typing.

关 键 词：神经胶质瘤 染色体缺失 原位杂交 荧光 

分 类 号：R739.41[医药卫生—肿瘤]