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Updated: Sep 15, 2025

Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors
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Genetic Variants in Pediatric Myeloproliferative Neoplasms Revealed by Next Generation Sequencing

Chang-Hun Park, Heyjin Kim, Boram Kim

    Clinical Laboratory
    |July 15, 2025
    PubMed
    Abstract

    Insights

    Pediatric myeloproliferative neoplasms (MPNs) show unique genetic profiles. Next-generation sequencing revealed fewer driver mutations in essential thrombocythemia (ET) and multiple non-driver mutations in primary myelofibrosis (PMF) in children.

    Area of Science:

    • Hematology
    • Oncology
    • Genetics

    Background:

    • Myeloproliferative neoplasms (MPNs) are rare clonal disorders of hematopoietic stem cells.
    • Pediatric MPNs, including essential thrombocythemia (ET) and primary myelofibrosis (PMF), have limited genetic and biological understanding.
    • Next-generation sequencing (NGS) offers a powerful tool to investigate the genetic landscape of pediatric MPNs.

    Purpose of the Study:

    • To identify and characterize genetic variants in pediatric MPNs using NGS.
    • To explore the genetic differences between pediatric and adult MPNs.
    • To assess the clinical significance of identified genetic variants in pediatric MPN patients.

    Main Methods:

    • Nine pediatric patients (8 ET, 1 PMF) diagnosed between 2000-2023 were included.
    • Bone marrow aspirate samples were analyzed using next-generation sequencing (NGS) on an Ion S5 XL Sequencer.
    • The OncomineTM myeloid research assay was employed for comprehensive genetic variant detection.

    Main Results:

    • Clinically significant genetic variants were identified in 56% of pediatric MPN patients.
    • Two ET patients harbored the JAK2 V617F driver mutation; two others had FLT3 and ETV6 variants.
    • The single PMF patient exhibited 10 variants across eight genes, including novel mutations in BCOR, TET2, and ZRSR2.

    Conclusions:

    • Pediatric MPNs present a distinct genetic profile compared to adult forms.
    • Pediatric ET shows a lower incidence of common driver mutations.
    • Pediatric PMF is characterized by multiple non-driver variants, potentially indicating a poorer prognosis.

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