关键词:
Cluster analysis
DNA methylation
DNA mutational analysis
FGFR3::TACC3 fusion
Glioma
Neoplasms, neuroepithelial
Prognosis
摘要:
目的: 探讨具有青少年多形性低级别神经上皮肿瘤(polymorphous low-grade neuroepithelial tumor of the young,PLNTY)特征的弥漫性胶质瘤的临床病理学和分子遗传学特征及其预后意义。 方法: 回顾性分析2020年6月至2024年8月福建医科大学附属第一医院14例具有PLNTY特征的弥漫性胶质瘤病例,总结其临床病理特征,通过二代测序及甲基化分析检测分子遗传学及表观遗传学特征,并分析预后影响因素。 结果: 14例患者中,男性8例,女性6例;年龄3~62岁,中位年龄29(9,50)岁。所有病例初次诊断时组织学均为低级别弥漫性胶质瘤,且均具有PLNTY的组织学及免疫组织化学特征。分子层面均存在丝裂原活化蛋白激酶通路异常,包括FGFR3::TACC3(F3T3)融合5例、FGFR2融合3例、BRAF V600E突变5例、FGFR1突变1例。其中,F3T3融合肿瘤中TERT启动子突变高频出现,非F3T3融合肿瘤则以NCOR2框内插入突变为主;5例F3T3融合病例均合并TERT启动子突变。临床随访显示3例患者复发,均为F3T3融合合并TERT启动子突变病例。预后分析显示,F3T3融合及TERT启动子突变是该类肿瘤潜在的预后负向因子。 结论: 具有PLNTY特征的弥漫性胶质瘤在临床病理及分子遗传学上具有异质性,以FGFR3、FGFR2融合及BRAF、FGFR1突变为主要分子特征。其中,F3T3融合患者常合并TERT启动子突变,预后不良,对此类患者应考虑分子胶质母细胞瘤的可能。建议对具有PLNTY特征的弥漫性胶质瘤进行上述基因检测,以助于整合诊断并提供预后相关的分子遗传学依据。.;Objective: To investigate the clinicopathological and molecular genetic characteristics of diffuse gliomas with the features of polymorphous low-grade neuroepithelial tumor of the young (PLNTY) and their prognostic values. Methods: A retrospective analysis was performed on 14 cases of diffuse gliomas with PLNTY features diagnosed at the First Affiliated Hospital of Fujian Medical University, Fuzhou, China from June 2020 to August 2024. Their clinicopathological characteristics were examined, and their molecular genetic and epigenetic features were assessed using next-generation sequencing (NGS) and methylation analysis. Factors influencing prognosis were also analyzed. Results: Among the 14 patients, there were 8 males and 6 females, aged 3-62 years, median 29 (9, 50) years. All cases were initially diagnosed as low-grade diffuse gliomas histologically but exhibited the histological and immunohistochemical features of PLNTY. At the molecular level, all cases showed molecular abnormalities involving the mitogen-activated protein kinase pathway, including 5 cases with FGFR3-TACC3 (F3T3) fusion, 3 cases with FGFR2 fusion, 5 cases with BRAF V600E mutation, and 1 case with FGFR1 mutation. Among them, TERT promoter mutations were frequently observed in tumors with F