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<p>Pediatric acute myeloid leukemia (AML) exhibits distinct genetic characteristics, including unique driver alterations and mutations with prognostic and therapeutic implications. Cytogenetics study, along with Next Generation Sequencing (NGS) panel testing, have long been the standard for molecular diagnosis of AML. While these approaches enable diagnosis and prognosis determination in most cases, they have limitations—particularly in detecting emerging rare, recurrent genetic abnormalities. In this study, we systematically reviewed our real-time clinical experience with the diagnostic workup of pediatric AML using an integrated whole genome and whole transcriptome sequencing (iWGS-WTS) approach and compared the test results obtained from various methodologies, including whole genome sequencing (WGS), whole exome sequencing (WES), whole transcriptome sequencing (WTS), iWGS-WTS, cytogenetics, and targeted panel NGS. Our findings demonstrate that the iWGS-WTS approach improves the identification of clinically relevant genetic alterations, enhancing precise disease classification and risk assessment. Additionally, the iWGS-WTS approach streamlines sample acquisition and reduces testing redundancy, positioning it as a practical and superior alternative to traditional diagnostic methods in pediatric AML management.</p>

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Clinical experience of using integrated whole genome and transcriptome sequencing as a framework for pediatric and adolescent acute myeloid leukemia diagnosis and risk assessment

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年10月7日

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  • Rebecca K. Voss,
  • Victor B. Pastor Loyola,
  • Maria F. Cardenas,
  • Priya Kumar,
  • Jamie L. Maciaszek,
  • Maria Namwanje,
  • Jing Ma,
  • Jennifer L. Neary,
  • Meiling Jin,
  • Masayuki Umeda,
  • Mark R. Wilkinson,
  • Debbie Payne-Turner,
  • Mohammad K. Eldomery,
  • Jingqun Ma,
  • Jiali Gu,
  • Jim Dalton,
  • Samantha Melton,
  • Yen-Chun Liu,
  • Scott Foy,
  • Michael Rusch,
  • David A. Wheeler,
  • Jinghui Zhang,
  • Kim E. Nichols,
  • Seth E. Karol,
  • Hiroto Inaba,
  • Raul Ribeiro,
  • Jeffrey E. Rubnitz,
  • Jeffery M. Klco,
  • Lu Wang

摘要

Pediatric acute myeloid leukemia (AML) exhibits distinct genetic characteristics, including unique driver alterations and mutations with prognostic and therapeutic implications. Cytogenetics study, along with Next Generation Sequencing (NGS) panel testing, have long been the standard for molecular diagnosis of AML. While these approaches enable diagnosis and prognosis determination in most cases, they have limitations—particularly in detecting emerging rare, recurrent genetic abnormalities. In this study, we systematically reviewed our real-time clinical experience with the diagnostic workup of pediatric AML using an integrated whole genome and whole transcriptome sequencing (iWGS-WTS) approach and compared the test results obtained from various methodologies, including whole genome sequencing (WGS), whole exome sequencing (WES), whole transcriptome sequencing (WTS), iWGS-WTS, cytogenetics, and targeted panel NGS. Our findings demonstrate that the iWGS-WTS approach improves the identification of clinically relevant genetic alterations, enhancing precise disease classification and risk assessment. Additionally, the iWGS-WTS approach streamlines sample acquisition and reduces testing redundancy, positioning it as a practical and superior alternative to traditional diagnostic methods in pediatric AML management.