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

doi:10.1038/s41375-025-02774-5

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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.

Leukemia - 1 Dec 2025

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

Abstract excerpt

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...

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PMID: 41057686
DOI: 10.1038/s41375-025-02774-5
PMCID: PMC12634442

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