Klin Padiatr 2025; 237(03): 177-178
DOI: 10.1055/s-0045-1808995
Abstracts

Inter- and intratumoral heterogeneity in MYCN-amplified spinal ependymoma.

D R Ghasemi
1   University Medical Center Hamburg-Eppendorf, Hamburg, Germany
2   Research Institute Children's Cancer Center, Hamburg, Germany
3   Hopp Children’s Cancer Center Heidelberg (KiTZ), Heidelberg, Germany
,
K Okonechnikov
3   Hopp Children’s Cancer Center Heidelberg (KiTZ), Heidelberg, Germany
4   German Cancer Research Center (DKFZ) and German Cancer Consortium (DKTK), Heidelberg, Germany
,
T Fischer
3   Hopp Children’s Cancer Center Heidelberg (KiTZ), Heidelberg, Germany
4   German Cancer Research Center (DKFZ) and German Cancer Consortium (DKTK), Heidelberg, Germany
5   National Center for Tumor Diseases (NCT) Heidelberg, Heidelberg, Germany
,
K Hack
1   University Medical Center Hamburg-Eppendorf, Hamburg, Germany
2   Research Institute Children's Cancer Center, Hamburg, Germany
,
L Bamberg
3   Hopp Children’s Cancer Center Heidelberg (KiTZ), Heidelberg, Germany
4   German Cancer Research Center (DKFZ) and German Cancer Consortium (DKTK), Heidelberg, Germany
,
U Schüller
1   University Medical Center Hamburg-Eppendorf, Hamburg, Germany
2   Research Institute Children's Cancer Center, Hamburg, Germany
,
D E Reuss
4   German Cancer Research Center (DKFZ) and German Cancer Consortium (DKTK), Heidelberg, Germany
6   University Hospital Heidelberg, Heidelberg, Germany
,
K W Pajtler
1   University Medical Center Hamburg-Eppendorf, Hamburg, Germany
2   Research Institute Children's Cancer Center, Hamburg, Germany
› Author Affiliations
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MYCN-amplified spinal ependymoma (SP-EPN-MYCN) represents a novel high-risk CNS tumour and no established therapeutic protocols. Here, we applied a multi-omics approach to investigate the molecular mechanisms in SP-EPN-MYCN. Copy number variation (CNV) analysis in a cohort of 111 samples (n=76 patients, 35 relapses) showed an amplification of MYCN in 108 and MYC in three tumours. Other CNVs included a loss of chromosome (Chr.) 10 (35/111). Single nucleus RNA-sequencing in 13 cases (25914 nuclei) revealed a diverse tumour microenvironment with both pro- and anti-inflammatory types of monocytic cells as well as tumour-infiltrating lymphocytes. The malignant cells showed upregulation of several biological programmes, including MYCN-driven proliferation, astrocytic and ependymal markers as well as neuronal signalling, pointing towards a glial progenitor of SP-EPN-MYCN.



Publication History

Article published online:
09 May 2025

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