Case Report: Chronic myeloid leukemia masquerading as essential thrombocythemia in a child: the imperative for early BCR::ABL1 testing in isolated thrombocytosis - Takeaways - MDSpire

Pediatric Case Study: Chronic Myeloid Leukemia Presenting as Isolated Thrombocytosis, Highlighting the Need for Early BCR::ABL1 Assessment in Differential Diagnosis

  • By

  • Haoping He

  • Jinqiu Fu

  • July 20, 2026

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  • 1

    Chronic myeloid leukemia (CML) is a rare pediatric hematologic malignancy, accounting for 2%-3% of childhood leukemias.

  • 2

    A 12-year-old female presented with isolated thrombocytosis, initially misdiagnosed as essential thrombocythemia (ET).

  • 3

    The diagnosis of CML was confirmed through detection of the BCR::ABL1 fusion gene after inadequate response to ET treatment.

  • 4

    The patient was treated with imatinib, achieving a complete cytogenetic response within four months.

  • 5

    The report emphasizes the importance of early BCR::ABL1 testing in pediatric patients presenting with isolated thrombocytosis.

Original Source(s)

Case Report: Chronic myeloid leukemia masquerading as essential thrombocythemia in a child: the imperative for early BCR::ABL1 testing in isolated thrombocytosis

  • by Haoping He, Jinqiu Fu

  • July 20, 2026

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