A Novel Type of IDH-wildtype Glioma Characterized by Gliomatosis Cerebri-like Growth Pattern, TERT Promoter Mutation, and Distinct Epigenetic Profile

胶质瘤 IDH1 少突胶质瘤 生物 外显子组测序 表观遗传学 病理 星形细胞瘤 外显子组 癌症研究 突变 医学 基因 遗传学
作者
Amos Muench,Daniel Teichmann,Dorothee Cäcilia Spille,Peter Kuzman,Eilís Pérez,Sven-Axel May,Wolf Mueller,Theodoros Kombos,Shokufe Nazari-Dehkordi,Julia Onken,Peter Vajkoczy,Georgios Ntoulias,Conceição Bettencourt,Andreas von Deimling,Werner Paulus,Frank L. Heppner,Arend Koch,David Capper,David Kaul,Christian Thomas,Leonille Schweizer
出处
期刊:The American Journal of Surgical Pathology [Ovid Technologies (Wolters Kluwer)]
卷期号:47 (12): 1364-1375 被引量:8
标识
DOI:10.1097/pas.0000000000002118
摘要

Diffuse gliomas in adults encompass a heterogenous group of central nervous system neoplasms. In recent years, extensive (epi-)genomic profiling has identified several glioma subgroups characterized by distinct molecular characteristics, most importantly IDH1/2 and histone H3 mutations. A group of 16 diffuse gliomas classified as "adult-type diffuse high-grade glioma, IDH-wildtype, subtype F (HGG-F)" was identified by the DKFZ v12.5 Brain Tumor Classifier . Histopathologic characterization, exome sequencing, and review of clinical data was performed in all cases. Based on unsupervised t -distributed stochastic neighbor embedding and clustering analysis of genome-wide DNA methylation data, HGG-F shows distinct epigenetic profiles separate from established central nervous system tumors. Exome sequencing demonstrated frequent TERT promoter (12/15 cases), PIK3R1 (11/16), and TP53 mutations (5/16). Radiologic characteristics were reminiscent of gliomatosis cerebri in 9/14 cases (64%). Histopathologically, most cases were classified as diffuse gliomas (7/16, 44%) or were suspicious for the infiltration zone of a diffuse glioma (5/16, 31%). None of the cases demonstrated microvascular proliferation or necrosis. Outcome of 14 patients with follow-up data was better compared to IDH-wildtype glioblastomas with a median progression-free survival of 58 months and overall survival of 74 months (both P <0.0001). Our series represents a novel type of adult-type diffuse glioma with distinct molecular and clinical features. Importantly, we provide evidence that TERT promoter mutations in diffuse gliomas without further morphologic or molecular signs of high-grade glioma should be interpreted in the context of the clinicoradiologic presentation as well as epigenetic profile and may not be suitable as a standalone marker for glioblastoma, IDH-wildtype.
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