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December 8, 2025BloodOpen Access

Feasibility and utility of unmatched whole-genome sequencing (uWGS)  for pediatric acute leukemias: An analysis of leukemia precision-based therapy (LEAP) study samples

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Authors

JGJesús Gutiérrez‐AbrilJOJuan Arango OssaSTSarah K. Tasian

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Overview

Analysis of unmatched whole-genome sequencing reveals significant oncogenic changes in pediatric leukemia samples, suggesting improved diagnostic outcomes.

Key Points

  • To evaluate the feasibility and clinical utility of unmatched whole-genome sequencing (uWGS) for pediatric acute leukemias.
  • Conducted uWGS on 68 leukemia samples from the LEAP study.
  • Assessed concordance of uWGS with karyotyping, FISH, and targeted sequencing.
  • Identified new genomic alterations and classified them based on clinical relevance.
  • uWGS showed 95% concordance with karyotyping and 100% with FISH.
  • 91% of samples with unknown driver profiles had additional oncogenic events identified by uWGS.
  • 74% of tested cases had incremental clinically relevant findings.

Cite This Study

Gutiérrez‐Abril et al. (2025) studied this question.

synapsesocial.com/papers/69362f514fa91c937236d978https://doi.org/10.1182/blood-2025-2561
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