Case Report: Chronic myeloid leukemia masquerading as essential thrombocythemia in a child: the imperative for early BCR::ABL1 testing in isolated thrombocytosis - Report - 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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Clinical Report: Chronic Myeloid Leukemia Presenting as Isolated Thrombocytosis

Background

Chronic myeloid leukemia (CML) is a rare hematologic malignancy in children, often presenting with leukocytosis and other symptoms. Its atypical presentations can lead to diagnostic challenges, as seen in this case where isolated thrombocytosis was the sole manifestation. Early detection and accurate diagnosis are crucial for effective treatment.

Data Highlights

ParameterValue
Platelet Count900–1,100 × 109/L
Initial TreatmentHydroxyurea and Aspirin
Response to TreatmentNo clinical response
Time to Complete Cytogenetic Response4 months

Key Findings

  • The patient initially presented with isolated thrombocytosis.
  • Initial treatment with hydroxyurea and aspirin was ineffective.
  • Diagnosis of CML was confirmed through BCR::ABL1 fusion gene detection.
  • The patient achieved a complete cytogenetic response after starting imatinib therapy.

Clinical Implications

Clinicians should consider CML in pediatric patients presenting with isolated thrombocytosis.

Conclusion

This case highlights the need for genetic testing in pediatric patients with isolated thrombocytosis.

Related Resources & Content

  1. Frontiers in Pediatrics, 2026 -- Case Report: Acute myeloid leukemia with mixed immunophenotypic features and TCF3::ZNF384 fusion in a pediatric patient with CNS involvement: a diagnostic and therapeutic challenge
  2. Frontiers in Oncology, 2026 -- Case Report: Pediatric Philadelphia chromosome-positive T-lymphoblastic leukemia relapsing as chronic-phase CML after treatment discontinuation
  3. Blood Cancer Journal -- Genomic Characterization of Philadelphia Chromosome-Negative Acute Myeloid Leukemia in Patients with Chronic Myelogenous Leukemia
  4. Blood Cancer Journal -- Extramedullary blast crisis in chronic myeloid leukemia during initial nilotinib therapy in the chronic phase
  5. 2025 European LeukemiaNet recommendations for the management of chronic myeloid leukemia - PMC
  6. Management of children and adolescents with chronic myeloid leukemia in chronic phase: International pediatric chronic myeloid leukemia expert panel recommendations - PubMed
  7. Pediatric CML Case Report
  8. 2025 European LeukemiaNet recommendations for the management of chronic myeloid leukemia - PMC
  9. Management of children and adolescents with chronic myeloid leukemia in chronic phase: International pediatric chronic myeloid leukemia expert panel recommendations - PubMed

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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