Background <p>Spinal ependymal tumors are a diverse group of neoplasms encompassing four subtypes: spinal ependymoma (SP-EPN), spinal ependymoma, <i>MYCN</i>-amplification (SP-EPN-<i>MYCN</i>), spinal myxopapillary ependymoma (SP-MPE), and spinal subependymoma (SP-SE). However, the molecular differences among these subtypes remain largely unknown.</p> Methods <p>Using an integrated multi-omics approach (whole-genome sequencing, RNA-seq, and mass spectrometry), we identified the distinct molecular characteristics of three subtypes except for SP-EPN-<i>MYCN</i>.</p> Results <p>In SP-EPN, abnormal enrichment of ciliary signaling, particularly involving the <i>MKS</i> complex, was evident. SP-MPE exhibited significant dysregulation of mitochondrial metabolism, reflecting a metabolic profile aligned with the Warburg effect. SP-SE tumors showed enhanced activity of immune-related pathways, including interferon signaling and extracellular vesicle dynamics, suggesting a distinct tumor microenvironment. </p> Conclusion <p>This pilot study identifies candidate molecular markers in a single-center spinal ependymal tumor cohort.</p> Clinical trial number <p>Not applicable.</p>

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Multi-omics analysis delineates molecular signatures of spinal ependymal tumor

  • Weihao Liu,
  • Chao Ning,
  • Xiaohan Geng,
  • Bo Wang,
  • Yaowu Zhang,
  • Chong Wang,
  • Yixiang Liu,
  • Guanghao Zheng,
  • Yongzhi Wang,
  • Xinyu Wang,
  • Dong Li,
  • Wenqing Jia

摘要

Background

Spinal ependymal tumors are a diverse group of neoplasms encompassing four subtypes: spinal ependymoma (SP-EPN), spinal ependymoma, MYCN-amplification (SP-EPN-MYCN), spinal myxopapillary ependymoma (SP-MPE), and spinal subependymoma (SP-SE). However, the molecular differences among these subtypes remain largely unknown.

Methods

Using an integrated multi-omics approach (whole-genome sequencing, RNA-seq, and mass spectrometry), we identified the distinct molecular characteristics of three subtypes except for SP-EPN-MYCN.

Results

In SP-EPN, abnormal enrichment of ciliary signaling, particularly involving the MKS complex, was evident. SP-MPE exhibited significant dysregulation of mitochondrial metabolism, reflecting a metabolic profile aligned with the Warburg effect. SP-SE tumors showed enhanced activity of immune-related pathways, including interferon signaling and extracellular vesicle dynamics, suggesting a distinct tumor microenvironment.

Conclusion

This pilot study identifies candidate molecular markers in a single-center spinal ependymal tumor cohort.

Clinical trial number

Not applicable.