儿童及青少年胚胎性横纹肌肉瘤的临床病理及分子遗传学特征分析  

Clinicopathological and molecular genetic characteristics of embryonal rhabdomyosarcoma in children and adolescents

作　　者：赵雪琰 李盼 赵志华[1] 陈奎生[1] Zhao Xueyan;Li Pan;Zhao Zhihua;Chen Kuisheng(Department of Pathology,the First Affiliated Hospital of Zhengzhou University,Zhengzhou 450052,China)

机构地区：[1]郑州大学第一附属医院病理科,郑州450052

出　　处：《中国实用医刊》2024年第14期10-13,共4页Chinese Journal of Practical Medicine

摘　　要：目的总结儿童及青少年胚胎性横纹肌肉瘤(ERMS)的临床病理及分子遗传学特征,探讨ERMS预后相关因素并提供可能的治疗靶点。方法回顾性分析2018年1月至2020年12月于郑州大学第一附属医院就诊的儿童及青少年ERMS病例共13例的临床病理资料,所有病例均行免疫组化及RNA-based NGS和DNA-based NGS检测并记录结果。结果13例病例中男7例,女6例;年龄≤18岁(3~18岁,中位5岁,平均7.08岁);肿瘤原发于头颈部8例(脑膜旁区域5例,非脑膜旁区域3例),泌尿生殖道4例,腹膜后1例;10例为原发病灶,3例(病例4、12、13)为复发病灶;肿瘤长径1.7~139.0 mm。镜下见间质不同程度的黏液变性,肿瘤细胞呈梭形,实性片状排列,局灶可见横纹肌分化的细胞,胞浆稍丰富,核分裂像易见。免疫组化结果显示Desmin、MyoD1、myogenin阳性表达,AE1AE3、EMA、CD34、SMA、S-100阴性表达,Ki-67阳性指数30%~80%;分子检测中13例共检出涉及101个基因的130种基因改变(5~29种,平均10种),其中5例(39%)NOTCH1/2突变,4例(31%)NRAS突变,1例(8%)KRAS突变,1例(8%)BRAF突变。随访3~55个月,5例死亡,8例无瘤生存。结论ERMS免疫组化及分子检测具有重要的诊断价值;RAS/RAF/PI3K通路相关基因突变与肿瘤发生有关;部分病例存在NOTCH1/2基因突变,可能成为其潜在的治疗靶点。ObjectiveTo summarize the clinicopathological and molecular genetic characteristics of embryonal rhabdomyosarcoma(ERMS)in children and adolescents,to investigate the prognostic factors of ERMS,and to provide potential therapeutic targets.MethodsThe clinicopathological data of 13 children and adolescents with ERMS who were treated in the First Affiliated Hospital of Zhengzhou University from January 2018 to December 2020 were retrospectively analyzed;and immunohistochemistry,RNA-based NGS and DNA-based NGS were performed on all selected patients,and recorded its results.ResultsAmong the 13 patients,7 cases were males and 6 cases were females,aged≤18 years(3-18 years,with a median age 5 of years and an averaged age of 7.08 years);8 cases of tumor originated from the head and neck(5 cases in parameningeal area and 3 cases in non-parameningeal area),4 cases originated from the genitourinary tract and 1 case originated from retroperitoneal tract;10 cases were primary lesions,3 cases(case 4,12,13)were recurrent lesions,and the major diameter of tumor was 1.7-139 mm.Under the microscope,different degrees of mucous degeneration in the interstitium were seen,the tumor cells were spindle-shaped in solid sheet-like arrangement;and the cells differentiated by striated muscle could be seen locally,with slightly rich cytoplasm and obvious mitotic figure.Immunohistochemistry results showed positive expressions of Desmin,MyoD1 and myogenin,negative expressions of AE1AE3,EMA,CD34,SMA and S-100,and Ki-67 positive index ranging from 30%to 80%;while 130 gene alterations involving 101 genes were detected out by molecular detection in 13 patients(5-29 types,with an average type of 10),including 5 cases(39%)NOTCH1/2 mutations,4 cases(31%)NRAS mutations,1 case(8%)KRAS mutation,and 1 case(8%)BRAF mutation.After follow-up of 3-55 months,5 cases died,and 8 cases survived without tumors.ConclusionsImmunohistochemistry and molecular detection of ERMS have important diagnostic value.RAS/RAF/PI3K pathway-related gene mutations are related to

关 键 词：胚胎性横纹肌肉瘤 分子分型 基因突变 

分 类 号：R738.6[医药卫生—肿瘤]