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<p>Rearrangements involving the <i>DUX4</i> gene (<i>DUX4-</i>r) define a subtype of paediatric and adult acute lymphoblastic leukaemia (ALL) with a favourable outcome. Currently, there is no ‘standard of care’ diagnostic method for their confident identification. Here, we present an open-source software tool designed to detect <i>DUX4</i>-r from short-read, whole-genome sequencing (WGS) data. Evaluation on a cohort of 210 paediatric ALL cases showed that our method detects all known, as well as previously unidentified, cases of <i>IGH::DUX4</i> and rearrangements with other partner genes. These findings demonstrate the possibility of robustly detecting <i>DUX4</i>-r using WGS in the routine clinical setting.</p>

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A dedicated caller for DUX4 rearrangements from whole-genome sequencing data

  • 期刊论文

  • 出版模式：

    开放获取

  • 发表日期：

    2025年1月30日

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  • Pascal Grobecker,
  • Stefano Berri,
  • John F. Peden,
  • Kai-Jie Chow,
  • Claire Fielding,
  • Ivana Armogida,
  • Helen Northen,
  • David J. McBride,
  • Peter J. Campbell,
  • Jennifer Becq,
  • Sarra L. Ryan,
  • David R. Bentley,
  • Christine J. Harrison,
  • Anthony V. Moorman,
  • Mark T. Ross,
  • Martina Mijuskovic

摘要

Rearrangements involving the DUX4 gene (DUX4-r) define a subtype of paediatric and adult acute lymphoblastic leukaemia (ALL) with a favourable outcome. Currently, there is no ‘standard of care’ diagnostic method for their confident identification. Here, we present an open-source software tool designed to detect DUX4-r from short-read, whole-genome sequencing (WGS) data. Evaluation on a cohort of 210 paediatric ALL cases showed that our method detects all known, as well as previously unidentified, cases of IGH::DUX4 and rearrangements with other partner genes. These findings demonstrate the possibility of robustly detecting DUX4-r using WGS in the routine clinical setting.