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BMC Neurology
Published in: BMC Neurology 1/2024

Open Access 01-12-2024 | Ependymoma | Research

Single-cell RNA sequencing of anaplastic ependymoma and H3K27M-mutant diffuse midline glioma

Authors: Dongdong Zang, Zilong Dong, Yuecheng Liu, Qian Chen

Published in: BMC Neurology | Issue 1/2024

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Abstract

Background

Anaplastic ependymoma and H3K27M-mutant diffuse midline glioma are two common subtypes of brain tumors with poor long-term prognosis. The present study analyzed and compared the differences in cell types between two tumors by single-cell RNA sequencing (scRNA-seq) technology.

Methods

ScRNA-seq was performed to profile cells from cancer tissue from anaplastic ependymoma patient and H3K27M-mutant diffuse midline glioma patient. Cell clustering, marker gene identification, cell type annotation, copy number variation analysis and function analysis of differentially expressed genes were then performed.

Results

A total of 11,219 cells were obtained from anaplastic ependymoma and H3K27M mutant diffuse midline glioma, and these cells categorized into 12 distinct clusters. Each cell cluster could be characterized with specific cell markers to indicate cellular heterogeneity. Five cell types were annotated in each sample, including astrocyte, oligodendrocytes, microglial cell, neural progenitor cell and immune cell. The cluster types and proportion of cell types were not consistent between the two brain tumors. Functional analyses suggest that these cell clusters are involved in tumor-associated pathways, with slight differences in the cells of origin between the two tumors. In addition, cell communication analysis showed that the NRG3-ERBB4 pair is a key Ligand-receptor pair for anaplastic ependymoma, while in H3K27M-mutant diffuse midline glioma it is the PTN-PTPRZ1 pair that establishes contact with other cells.

Conclusion

There was intratumor heterogeneity in anaplastic ependymoma and H3K27M mutant diffuse midline glioma, and that the subtype differences may be due to differences in the origin of the cells.
Appendix
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Metadata
Title
Single-cell RNA sequencing of anaplastic ependymoma and H3K27M-mutant diffuse midline glioma
Authors
Dongdong Zang
Zilong Dong
Yuecheng Liu
Qian Chen
Publication date
01-12-2024
Publisher
BioMed Central
Published in
BMC Neurology / Issue 1/2024
Electronic ISSN: 1471-2377
DOI
https://doi.org/10.1186/s12883-024-03558-7

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