TY  - JOUR
AU  - Muench, Amos
AU  - Teichmann, Daniel
AU  - Spille, Dorothee
AU  - Kuzman, Peter
AU  - Perez, Eilis
AU  - May, Sven-Axel
AU  - Mueller, Wolf C
AU  - Kombos, Theodoros
AU  - Nazari-Dehkordi, Shokufe
AU  - Onken, Julia
AU  - Vajkoczy, Peter
AU  - Ntoulias, Georgios
AU  - Bettencourt, Conceição
AU  - von Deimling, Andreas
AU  - Paulus, Werner
AU  - Heppner, Frank L
AU  - Koch, Arend
AU  - Capper, David
AU  - Kaul, David
AU  - Thomas, Christian
AU  - Schweizer, Leonille
TI  - A Novel Type of IDH Wild-type Glioma Characterized by Gliomatosis Cerebri-like Growth Pattern, TERT Promoter Mutation, and Distinct Epigenetic Profile.
JO  - The American journal of surgical pathology
VL  - 47
IS  - 12
SN  - 0147-5185
CY  - [Erscheinungsort nicht ermittelbar]
PB  - Ovid
M1  - DKFZ-2023-01925
SP  - 1364-1375
PY  - 2023
N1  - 2023 Dec 1;47(12):1364-1375
AB  - 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
LB  - PUB:(DE-HGF)16
C6  - pmid:37737691
DO  - DOI:10.1097/PAS.0000000000002118
UR  - https://inrepo02.dkfz.de/record/283138
ER  -