临床与实验病理学杂志2024，Vol.40Issue(7)：696-700,5.DOI:10.13315/j.cnki.cjcep.2024.07.006
儿童弥漫性中线胶质瘤伴H3K27变异型102例临床病理特征
Clinicopathological characteristics of diffuse midline gliomas with H3K27-altered:an analysis of 102 children cases
摘要
Abstract
Purpose To investigate the clinicopathological characteristics of pediatric diffuse midline gliomas(DMG)with H3K27-altered.Methods Clinical data of 102 patients with diffuse midline glioma with H3K27-altered were collected,HE and immunohistochemistry EnVision two-step staining was used,and Sanger sequencing for molecular detection was used to ana-lyze their clinical and pathological characteristics and reviewed relevant literatures.Results The age of patients ranged from 1 to 14 years(median age,7 years).Brainstem was the predilec-tion site(81.4％)while other sites included basal ganglia,pin-eal,etc(18.6％).The main clinical manifestations were dizzi-ness,headache,gait instability,etc.The lesions mainly showed hypointensity or isointensity on T1 and hyperintensity on T2 in MRI.Histology showed high-grade gliomas in 64 cases(62.7％)and low-grade gliomas in 38 cases(37.3％).Immunohisto-chemistry showed downexpression or loss of H3K27me3 in 81 ca-ses(100％),H3K27M expression in 100 cases(98％)cases,and EZHIP expression in 2 cases(2％).BRAF V600E expres-sion was detected in only 2.2％(2/89)while p53 mutation in 53.6％(52/97).Additionally,loss of ATRX expression was de-tected in 19.1％(18/94)while the expression of IDH1 was neg-ative in all cases(89/89).Molecular tests showed that of BRAF mutation was 1.7％(1/59)and EGFR mutation was 9.1％(1/11).Conclusion Children DMG with H3K27-altered tend to occur in the brainstem.The histological grade is mostly high.Immunohistochemistry staining of H3K27me3 show varying de-grees of deficiency.Molecular variants include H3K27M muta-tion or EZHIP overexpression and EGFR mutation.关键词
弥漫性中线胶质瘤伴H3K27变异型/儿童/临床病理/免疫组织化学Key words
diffuse midline gliomas with H3K27-altered/chil-dren/clinicopathological characteristics/immunohistochemistry分类
医药卫生引用本文复制引用
李金华,王立峰,王佳..儿童弥漫性中线胶质瘤伴H3K27变异型102例临床病理特征[J].临床与实验病理学杂志,2024,40(7):696-700,5.基金项目
国家卫健委能力建设和继续教育中心(BLC2023JJSJ008) （BLC2023JJSJ008）
