Pediatric CML progression to blast crisis: A case report and review

Abstract

Background

Chronic Myeloid Leukemia (CML) is a rare malignancy among children, having an incidence of 1 in a million. It is driven by the Philadelphia chromosome, resulting in the BCR-ABL1 fusion gene. Pediatric cases typically present in the chronic phase and are managed with tyrosine kinase inhibitors (TKIs) like imatinib. However, some cases progress to blast crisis, leading to life-threatening complications such as ARDS as in our case.

Case discussion

We report the case of a 14-year-old female with previously undiagnosed chronic myeloid leukemia (CML), who presented with acute symptoms including bleeding gums, fever, cough, jaundice, and respiratory distress. She had a 1.5-year history of progressive fatigue, abdominal pain, and weight loss, managed symptomatically without definitive diagnosis. On admission, she was found to be in blast crisis with a WBC count of 31.3 × 10⁹/L and > 20 % blasts. Imaging revealed hepatosplenomegaly and features of ARDS. Bone marrow biopsy confirmed CML with Philadelphia chromosome positivity. She was treated in the ICU with Imatinib, hydroxyurea, antibiotics, oxygen therapy, and transfusions. Her condition stabilized after three weeks, and she was discharged for follow-up and continued therapy.

Conclusion

This case highlights the rarity of chronic myeloid leukemia (CML) in pediatric patients, which can present with severe symptoms and life-threatening complications like ARDS. Physicians should maintain a high suspicion for underlying malignancy in children with unexplained progressive illness, as early detection and intervention are critical for preventing fatal outcomes.