TY  - JOUR
AU  - Koelsche, Christian
AU  - Hartmann, Wolfgang
AU  - Schrimpf, Daniel
AU  - Stichel, Damian
AU  - Jabar, Susanne
AU  - Ranft, Andreas
AU  - Reuss, David E
AU  - Sahm, Felix
AU  - Jones, David
AU  - Bewerunge-Hudler, Melanie
AU  - Trautmann, Marcel
AU  - Klingebiel, Thomas
AU  - Vokuhl, Christian
AU  - Gessler, Manfred
AU  - Wardelmann, Eva
AU  - Petersen, Iver
AU  - Baumhoer, Daniel
AU  - Flucke, Uta
AU  - Antonescu, Cristina
AU  - Esteller, Manel
AU  - Fröhling, Stefan
AU  - Kool, Marcel
AU  - Pfister, Stefan
AU  - Mechtersheimer, Gunhild
AU  - Dirksen, Uta
AU  - von Deimling, Andreas
TI  - Array-based DNA-methylation profiling in sarcomas with small blue round cell histology provides valuable diagnostic information.
JO  - Modern pathology
VL  - 31
IS  - 8
SN  - 1530-0285
CY  - London
PB  - Nature Publishing Group
M1  - DKFZ-2018-01427
SP  - 1246 - 1256
PY  - 2018
AB  - Undifferentiated solid tumors with small blue round cell histology and expression of CD99 mostly resemble Ewing sarcoma. However, they also may include other tumors such as mesenchymal chondrosarcoma, synovial sarcoma, or small cell osteosarcoma. Definitive classification usually requires detection of entity-specific mutations. While this approach identifies the majority of Ewing sarcomas, a subset of lesions remains unclassified and, therefore, has been termed 'Ewing-like sarcomas' or small blue round cell tumors not otherwise specified. We developed an approach for further characterization of small blue round cell tumors not otherwise specified using an array-based DNA-methylation profiling approach. Data were analyzed by unsupervised clustering and t-distributed stochastic neighbor embedding analysis and compared with a reference methylation data set of 460 well-characterized prototypical sarcomas encompassing 18 subtypes. Verification was performed by additional FISH analyses, RNA sequencing from formalin-fixed paraffin-embedded material or immunohistochemical marker analyses. In a cohort of more than 1,000 tumors assumed to represent Ewing sarcomas, 30 failed to exhibit the typical EWS translocation. These tumors were subjected to methylation profiling and could be assigned to Ewing sarcoma in 14 (47
LB  - PUB:(DE-HGF)16
C6  - pmid:29572501
DO  - DOI:10.1038/s41379-018-0045-3
UR  - https://inrepo02.dkfz.de/record/136999
ER  -