The role of molecular biology in the diagnosis and monitoring of chronic myeloid leukemia: Experience from the hematology laboratory of Avicenna hospital in Marrakech

Background: Advances in molecular biology have transformed the diagnosis and therapeutic monitoring of chronic myeloid leukemia (CML), particularly through the implementation of rapid, standardized testing such as GeneXpert. This study, conducted at the Hematology Laboratory of Avicenna Hospital in Marrakech, highlights the clinical impact of these innovations in a resource-limited setting. Methods: We conducted a retrospective analysis of 10 patients diagnosed with CML between 2015 and 2021. BCR-ABL1 transcript levels were monitored using the GeneXpert assay, with data collected from laboratory records and clinical charts. Results: A major molecular response (MMR) was achieved in 70% of patients by 12 months, with rapid early molecular responses observed in most cases. Imatinib was used as first-line therapy in all patients. Treatment escalation to nilotinib and masitinib was necessary in cases of suboptimal response or resistance. The presence of resistance-associated mutations, including T315I, was identified as a key therapeutic challenge. Conclusions: The integration of molecular diagnostic tools such as GeneXpert significantly improves disease monitoring and response assessment in CML. However, disparities in access to modern treatments and limitations in mutation-guided therapy remain major challenges. Strengthening public–private partnerships is essential to expand access to advanced diagnostics and reduce inequities in care delivery.