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December 8, 2025BloodOpen Access

Genetic landscape of pediatric myelodysplastic syndrome in Japan

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Authors

KMKaito MimuraRORintaro OnoSTShin‐ichi Tsujimoto

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Overview

Genomic analysis shows somatic mutations and pathogenic variants in pediatric myelodysplastic syndrome, highlighting genetic testing's utility.

Key Points

  • The aim is to elucidate the genetic landscape of pediatric myelodysplastic syndrome (MDS) in Japan and evaluate the role of genetic testing.
  • Analyzed 35 Japanese pediatric cases with morphologically suspected MDS.
  • Employed targeted panel sequencing of driver genes and SNP sites.
  • Conducted morphological evaluations by designated experts.
  • Identified distinct somatic mutations primarily in the RAS/MAPK pathway.
  • Found a greater prevalence of UBTF tandem duplication in advanced MDS cases.
  • Documented pathogenic germline variants, particularly in RUNX1, indicating population-specific genetic traits.

Cite This Study

Mimura et al. (2025) studied this question.

synapsesocial.com/papers/69362f6c4fa91c937236df8bhttps://doi.org/10.1182/blood-2025-5612
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Also Consider

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

  1. 1Genomic Landscape and Clinical Outcomes of Advanced Pediatric Myelodysplastic Syndromes2026
  2. 2Longitudinal genomic and cytogenetic dynamics in myelodysplastic syndromes (MDS): Insights into clonal evolution and disease progression2025
  3. 3Clinical, Genetic, and Pathologic Variability in Myelodysplastic Syndromes and Precursor Conditions Across Race, Ethnicity, and Sex2026
  4. 4Genomic Landscape of Myelodysplastic/Myeloproliferative Neoplasms: A Multi-Central Study2024 · 7 citations
  5. 5B-214 Mutational Landscapes of Acute Myeloid Leukemia and Myelodysplastic Syndromes: A Database-Driven Comprehensive Myeloid Panel Analysis of DNA Variants and Gene Fusions2024