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December 8, 2025Blood

A prospective Study of whole genome sequencing for genomic profiling and risk determination in MDS

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Authors

RJRigoberto de JesusEDEric J. Duncavage

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Overview

Prospective study shows whole genome sequencing improves diagnostic yield in myeloid malignancies, suggesting better risk categorization.

Key Points

  • To evaluate the feasibility and advantages of whole genome sequencing (WGS) in myeloid malignancies for risk stratification.
  • Conducted a prospective clinical trial with 66 patients
  • Performed whole genome sequencing on DNA from blood or bone marrow samples
  • Compared WGS to conventional genomic profiling including cytogenetics and targeted gene panel sequencing.
  • WGS was successful in 100% of cases, while conventional cytogenetics failed in 14%
  • WGS identified complex cytogenetic changes and provided additional information for IPSS-M risk categorization
  • Improved risk categories were found in 15% of patients through WGS, impacting therapeutic decisions.

Cite This Study

Jesus et al. (2025) studied this question.

synapsesocial.com/papers/69362f4e4fa91c937236d88fhttps://doi.org/10.1182/blood-2025-5640
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Also Consider

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

  1. 1Abstract 5300: Clinical utility of whole genome sequencing for upfront risk stratification in AML and MDS patients2026
  2. 2Whole genome sequencing to identify novel, clinically relevant findings missed by standard of care for patients with myelodysplastic syndrome.2026
  3. 3MDS without clonal marker: When depth outperforms breadth2025
  4. 4Comprehensive and rapid detection of genomic alterations in pediatric leukemias using whole-genome sequencing with adaptive sampling2025 · 1 citations
  5. 5Abstract 1067: Whole genome sequencing of multiple myeloma genomes with a novel clinical assay enables identification of genetic alterations underlying immunotherapy resistance2026