Journal Article

DKFZ-2019-00946

http://join2-wiki.gsi.de/foswiki/pub/Main/Artwork/join2_logo100x88.png DNA methylation profiling distinguishes Ewing-like sarcoma with EWSR1-NFATc2 fusion from Ewing sarcoma.

Koelsche, C. ; Kriegsmann, M. ; Kommoss, F. K. F. ; Stichel, D.DKFZ* ; Kriegsmann, K. ; Vokuhl, C. ; Grünewald, T. G. P.DKFZ* ; Romero-Pérez, L. ; Kirchner, T.DKFZ* ; de Alava, E. ; Diaz-Martin, J. ; Hartmann, W. ; Baumhoer, D. ; Antonescu, C. R. ; Szuhai, K. ; Flucke, U. ; Dirksen, U. ; Pfister, S.DKFZ* ; Jones, D.DKFZ* ; Mechtersheimer, G. ; von Deimling, A. (Last author)DKFZ*

2019
Springer42162 Berlin

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Please use a persistent id in citations: doi:10.1007/s00432-019-02895-2

Abstract: Recent studies revealed divergent gene expression patterns in Ewing sarcoma (EwS) with canonical EWSR1-ETS gene fusions and undifferentiated round cell sarcomas (URCS) with EWSR1 rearrangements fused to the non-ETS gene NFATc2. Thus, the question arises whether the latter tumors really belong to EwS.We collected five cases matching the group of URCS with EWSR1-NFATc2 fusion and performed DNA methylation and copy number profiling. Results were compared to methylation data of 30 EwS with various EWSR1-ETS fusions and one EwS with FUS-ERG fusion, 16 URCS with CIC rearrangement and 10 URCS with BCOR alteration and a total of 81 EWSR1-associated soft tissue sarcomas including 7 angiomatoid fibrous histiocytomas, 7 clear cell sarcomas of the soft tissue, 28 desmoplastic small round cell tumors, 10 extraskeletal myxoid chondrosarcomas and 29 myxoid liposarcomas.Unsupervised hierarchical clustering and t-distributed stochastic neighbor embedding analysis of DNA methylation data revealed a homogeneous methylation cluster for URCS with EWSR1-NFATc2 fusion, which clearly segregated from EwS and the other subtypes. Copy number profiles of EWSR1-NFATc2 cases showed recurrent losses on chromosome 9q and segmental gains on 20q13 and 22q12 involving the EWSR1 and NFATc2 loci, respectively.In summary, URCS with EWSR1-NFATc2 fusion share a distinct DNA methylation signature and carry characteristic copy number alterations, which emphasizes that these sarcomas should be considered separately from EwS.

Note: 145(5):1273-1281

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Contributing Institute(s):

1. KKE Neuropathologie (B300)
2. Computer-assistierte Interventionen (E131)
3. Pädiatrische Neuroonkologie (B062)
4. Nachwuchsgruppe Pädiatrische Gliomforschung (B360)
5. DKTK Heidelberg (L101)
6. DKTK München (L701)

Research Program(s):

1. 312 - Functional and structural genomics (POF3-312) (POF3-312)

Appears in the scientific report 2019

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Database coverage:
; BIOSIS Previews ; Current Contents - Life Sciences ; Ebsco Academic Search ; IF < 5 ; JCR ; NCBI Molecular Biology Database ; SCOPUS ; Science Citation Index ; Science Citation Index Expanded ; Thomson Reuters Master Journal List ; Web of Science Core Collection

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