Bhardwaj Supriya, Jangir Hemlata, Singh Swati, Singh Jyotsna, Sharma Mehar Chand, Suri Ashish, Kedia Shweta, Garg Ajay, Sarkar Chitra, Suri Vaishali
Neuropathology Laboratory, All India Institute of Medical Sciences, New Delhi, India.
Department of Neurosurgery, All India Institute of Medical Sciences, New Delhi, India.
Childs Nerv Syst. 2025 May 31;41(1):198. doi: 10.1007/s00381-025-06853-x.
The classification of central nervous system (CNS) tumors has evolved significantly with the integration of molecular markers, particularly through DNA methylation profiling. We aimed to explore the disparity between epigenetic profiling, histomorphology, and CNS WHO grade by analyzing the therapeutic and survival duration of the patients.
This retrospective study evaluated three ambiguous pediatric cases, aged 9 to 15 years, with a radiological diagnosis of high-grade glioma. A multidisciplinary approach assessed the discordance between histomorphology, epigenetic profiling, CNS WHO grade, and overall survival.
Based on the 5th edition CNS WHO classification, two cases were diagnosed as diffuse pediatric-type high-grade gliomas (PHGG), H3 wild type, IDH wild type, NOS. One of the cases exhibited a BRAF V600E mutation and was classified as glioblastoma with BRAF V600E mutation. DNA methylation profiling using the Heidelberg/DKFZ Classifier classified all three cases as pleomorphic xanthoastrocytoma (PXA), despite a mean survival of only 13.7 months.
The study highlights that the methylation class PXA comprises tumors which can exhibit high-grade features and a poor prognosis.
随着分子标志物的整合，尤其是通过DNA甲基化分析，中枢神经系统（CNS）肿瘤的分类有了显著进展。我们旨在通过分析患者的治疗情况和生存期，探讨表观遗传学分析、组织形态学与CNS WHO分级之间的差异。
这项回顾性研究评估了3例年龄在9至15岁之间、放射学诊断为高级别胶质瘤的儿科疑难病例。采用多学科方法评估组织形态学、表观遗传学分析、CNS WHO分级与总生存期之间的不一致性。
根据第5版CNS WHO分类，2例被诊断为弥漫性儿童型高级别胶质瘤（PHGG），H3野生型，异柠檬酸脱氢酶（IDH）野生型，未特指。其中1例表现出BRAF V600E突变，被归类为伴有BRAF V600E突变的胶质母细胞瘤。尽管平均生存期仅为13.7个月，但使用海德堡/德国癌症研究中心（DKFZ）分类器进行的DNA甲基化分析将所有3例病例归类为多形性黄色星形细胞瘤（PXA）。
该研究强调，甲基化分类的PXA包含可表现出高级别特征和预后不良的肿瘤。
