TY - JOUR
AU - Federico, Aniello
AU - Thomas, Christian
AU - Miskiewicz, Katarzyna
AU - Woltering, Niklas
AU - Zin, Francesca
AU - Nemes, Karolina
AU - Bison, Brigitte
AU - Johann, Pascal D
AU - Hawes, Debra
AU - Bens, Susanne
AU - Kordes, Uwe
AU - Albrecht, Steffen
AU - Dohmen, Hildegard
AU - Hauser, Peter
AU - Keyvani, Kathy
AU - van Landeghem, Frank K H
AU - Lund, Eva Løbner
AU - Scheie, David
AU - Mawrin, Christian
AU - Monoranu, Camelia-Maria
AU - Parm Ulhøi, Benedicte
AU - Pietsch, Torsten
AU - Reinhard, Harald
AU - Riemenschneider, Markus J
AU - Sehested, Astrid
AU - Sumerauer, David
AU - Siebert, Reiner
AU - Paulus, Werner
AU - Frühwald, Michael C
AU - Kool, Marcel
AU - Hasselblatt, Martin
TI - ATRT-SHH comprises three molecular subgroups with characteristic clinical and histopathological features and prognostic significance.
JO - Acta neuropathologica
VL - 143
IS - 6
SN - 0001-6322
CY - Heidelberg
PB - Springer
M1 - DKFZ-2022-00945
SP - 697-711
PY - 2022
N1 - #EA:B062#LA:B062# / 2022 Jun;143(6):697-711
AB - Atypical teratoid/rhabdoid tumor (ATRT) is an aggressive central nervous system tumor characterized by loss of SMARCB1/INI1 protein expression and comprises three distinct molecular groups, ATRT-TYR, ATRT-MYC and ATRT-SHH. ATRT-SHH represents the largest molecular group and is heterogeneous with regard to age, tumor location and epigenetic profile. We, therefore, aimed to investigate if heterogeneity within ATRT-SHH might also have biological and clinical importance. Consensus clustering of DNA methylation profiles and confirmatory t-SNE analysis of 65 ATRT-SHH yielded three robust molecular subgroups, i.e., SHH-1A, SHH-1B and SHH-2. These subgroups differed by median age of onset (SHH-1A: 18 months, SHH-1B: 107 months, SHH-2: 13 months) and tumor location (SHH-1A: 88
KW - ASCL1 (Other)
KW - Atypical teratoid/rhabdoid tumor (Other)
KW - DNA methylation profiling (Other)
KW - GFAP (Other)
KW - Gene expression (Other)
KW - Neuroradiology (Other)
KW - OLIG2 (Other)
KW - Overall survival (Other)
KW - Prognosis (Other)
KW - Sonic hedgehog (Other)
LB - PUB:(DE-HGF)16
C6 - pmid:35501487
DO - DOI:10.1007/s00401-022-02424-5
UR - https://inrepo02.dkfz.de/record/179883
ER -