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December 8, 2025BloodOpen Access

MDS without clonal marker: When depth outperforms breadth

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Authors

SHSandra HuberWWWencke WalterMTMarietta Truger

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Overview

Analysis reveals chromosomal abnormalities and genetic variants in myelodysplastic neoplasms, highlighting targeted deep sequencing for improved insights.

Key Points

  • Significant chromosomal abnormalities were identified using whole genome sequencing in the MDS cohort, indicating the need for focused analyses.
  • A total of 56 out of 636 MDS cases showed no genetic aberrations, with a notably better median overall survival in this group.
  • Whole genome sequencing and exome analysis provided extensive data on potential pathogenic variants and their implications for prognosis.
  • Targeted sequencing revealed prognostically relevant subclonal mutations, emphasizing the importance of in-depth genetic characterization.

Cite This Study

Huber et al. (2025) studied this question.

synapsesocial.com/papers/69362f4b4fa91c937236d793https://doi.org/10.1182/blood-2025-2071
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Also Consider

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

  1. 1Longitudinal genomic and cytogenetic dynamics in myelodysplastic syndromes (MDS): Insights into clonal evolution and disease progression2025
  2. 2A prospective Study of whole genome sequencing for genomic profiling and risk determination in MDS2025
  3. 3Molecular subclusters across the continuum of myelodysplastic neoplasms and acute myeloid leukaemia define distinct clinical entities2025
  4. 4Invariant patterns of global mutational signatures allow new fundamental insights in etiopathogenesis of bone marrow failure including aplastic anemia and myelodysplasia2025
  5. 5Deciphering clonal progression in MDS via longitudinal sequencing2025