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September 5, 2026HematologyOpen Access

Integrative bioinformatic analysis delineates a mitochondrial-hematopoietic gene signature for diagnosis and immune characterization in myelodysplastic syndromes

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Authors

XLXianchuan LiuHZHong ZhangXLXiangzhu Li

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Overview

Bioinformatic analysis identifies a 17-gene mitochondrial-hematopoietic diagnostic signature in myelodysplastic syndromes, indicating distinct immune subtypes and potential therapeutic targets.

Key Points

  • To establish a mitochondrial- and hematopoiesis-related gene signature for diagnosing myelodysplastic syndromes (MDS) and to explore its regulatory networks and immune microenvironment associations.
  • Integrated differentially expressed genes across three microarray cohorts (GSE145733, GSE19429, GSE81173) with curated mitochondrial- and hematopoiesis-related gene databases.
  • Utilized functional enrichment, machine learning models (LASSO, logistic regression, support vector machines), ssGSEA immune infiltration profiling, and RT-qPCR validation.
  • Identified 29 overlapping differentially expressed genes enriched in MAPK and PI3K-Akt pathways, yielding a 17-gene diagnostic signature with an AUC of 0.963.
  • Observed that FGF2 served as the highest-weighted diagnostic predictor, showing significant upregulation confirmed by RT-qPCR (p < 0.05) and regulatory connections to RUNX1 and miR-15/16 families.
  • Identified two immune clusters: Cluster 1 linked CREB1 to effector memory CD4 T cells (r = 0.461) and Cluster 2 linked KITLG to T follicular helper cells (r = 0.546).

Cite This Study

Liu et al. (2026) studied this question.

synapsesocial.com/papers/6a9bd4536b95aff0620ebf8chttps://doi.org/10.1080/16078454.2026.2724212
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Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Multicohort transcriptomic integration and machine learning-based diagnostic modeling for myelodysplastic syndromes2026
  2. 2Proteomics in myelodysplastic syndromes: towards novel prognostic and diagnostic biomarkers2026
  3. 3Construction and experimental validation of a novel ferroptosis‐related gene signature for myelodysplastic syndromes2024 · 5 citations
  4. 4Integrated Multi-Cohort Analysis of Whole-Genome and Transcriptome Data Reveals Interplay between Metabolism and Methylation in Myelodysplastic Syndrome (MDS)2024 · 2 citations
  5. 5Identification and validation of mitochondrial and programmed cell death-related prognostic markers in pediatric acute myeloid leukemia2025