Paediatric chronic myeloid leukaemia presenting in de novo or secondary blast phase - a comparison of clinical and genetic characteristics

Abstract

Additional data on blast phase (BP) chronic myeloid leukaemia (CML) in children and adolescents is essential for improving diagnostic and therapeutic approaches of this rare but serious condition. Here, we describe distinct clinical and genetic characteristics of 18 paediatric patients with de novo (n = 10) and secondary (n = 8) BP CML enrolled in the CML-PAED-II trial and registry. Our findings suggest that paediatric patients exhibit a diverse cytogenetic profile compared to adults with BP CML. In addition, patients with de novo BP CML in this cohort presented at a younger age, whereas patients with secondary BP CML more often harboured complex karyotypes.

Keywords: ABL1 kinase domain mutations; Chronic myeloid leukemia; blast phase; chemotherapy regimen; cytogenetic aberrations; hematopoietic stem cell transplantation; pediatric chronic myeloid leukemia; tyrosine kinase inhibitor.