METHODS: Samples were subjected to histological review, desoxyribonucleic acid (DNA) methylation profiling and next-generation sequencing. Morphological and molecular data were summarised to an integrated diagnosis.
RESULTS: The majority of tumours designated as anaplastic gangliogliomas resolved into other CNS WHO diagnoses, most commonly pleomorphic xanthoastrocytoma (16/54), glioblastoma, isocitrate dehydrogenase protein (IDH) wild type and diffuse paediatric-type high-grade glioma, H3 wild type and IDH wild type (11 and 2/54), followed by low-grade glial or glioneuronal tumours including pilocytic astrocytoma, dysembryoplastic neuroepithelial tumour and diffuse leptomeningeal glioneuronal tumour (5/54), IDH mutant astrocytoma (4/54) and others (6/54). A subset of tumours (10/54) was not assignable to a CNS WHO diagnosis, and common molecular profiles pointing to a separate entity were not evident.
CONCLUSIONS: In summary, we show that tumours histologically diagnosed as anaplastic ganglioglioma comprise a wide spectrum of CNS WHO tumour types with different prognostic and therapeutic implications. We therefore suggest assigning this designation with caution and recommend comprehensive molecular workup.
方法:对样本进行组织学检查,脱氧核糖核酸(DNA)甲基化分析和下一代测序。将形态学和分子数据总结为综合诊断。
结果:大多数被指定为间变性神经节胶质瘤的肿瘤在其他中枢神经系统WHO诊断中消退,最常见的多形性黄色星形细胞瘤(16/54),胶质母细胞瘤,异柠檬酸脱氢酶蛋白(IDH)野生型和弥漫性儿科型高级别神经胶质瘤,H3野生型和IDH野生型(11和2/54),其次是低级别的神经胶质或神经胶质细胞瘤,包括毛细胞星形细胞瘤,胚胎发育不良神经上皮肿瘤和弥漫性软脑膜神经胶质瘤(5/54),IDH突变型星形细胞瘤(4/54)等(6/54)。一部分肿瘤(10/54)不能分配给中枢神经系统WHO诊断,和指向单独实体的共同分子谱并不明显。
结论:总之,我们表明,组织学诊断为间变性神经节胶质瘤的肿瘤包括广泛的CNSWHO肿瘤类型,具有不同的预后和治疗意义.因此,我们建议谨慎分配此名称,并建议进行全面的分子检查。