Chronic myeloid leukemia: contemporary approaches to diagnosis management

Abstract

Background. Chronic myeloid leukemia (CML) is characterized by excessive proliferation of myeloid cells, with an increase in the circulating mass and global reservoir of granulocytes, constituting 15-20% of all leukemia cases in adults, being the most common and complexly diagnosed chronic myeloproliferative neoplasm. Objective(s). The aim of the research was to evaluate contemporary biological patterns of CML in order to update managerial-diagnostic approaches, taking into account gaps in the early diagnosis of this neoplasm. Materials and methods. This cross-sectional cohort study enrolled 134 patients with CML, treated in the Oncological Institute of Moldova between 2015–2024. The age range was 14– 82 years (mean age – 47.91 ± 2.13 years). Quantitative real-time PCR was used to determine the expression of BCR-ABL p210 and p190 gene transcripts while processing the CML diagnosis. Results. The diagnosis was established in the chronic phase in 122 (91.04 ± 2.32%) cases, in the accelerated and acute phase – in 12 (8.96 ± 2.03%) cases. In 69.8% of cases, the expression of BCR-ABL1 gene transcripts exceeded 65%. The dynamics of the percentage of cells bearing BCR-ABL1 gene transcripts was observed as CML transformed from the early chronic phase (48,2%) to the late chronic phase (56,9%) and accelerated phase (66,5%), which demonstrates the value of this diagnostic indicator. The b3a2 transcript (68 patients or 56.7%) turned out to be the most frequent (<0.001). The b3a3 transcript was identified as the rarest (2 cases or 1.7%). Conclusion(s). Contemporary diagnosis management in CML includes cytogenetic and molecular-genetic investigations of peripheral blood regardless of the evolutionary phase, with FISH and RT-PCR as decision-making options. The expression of BCR-ABL1 transcripts grows as the diagnosis progresses to advanced phases.