Chronic myeloid leukemia (CML) is a myeloproliferative neoplasm caused by the t(9;22)(q34;q11.2) translocation, known as the Philadelphia chromosome (Ph+), which generates the BCR::ABL1 fusion oncogene central to CML pathogenesis. The disease accounts for approximately 15% of adult leukemias, predominantly affects males, and has a median age at diagnosis of around 57 years. CML typically presents in the chronic phase and may progress to advanced disease phases, with prognostic risk stratification guiding treatment decisions. Tyrosine kinase inhibitors (TKIs) are the cornerstone of therapy, aiming to achieve durable molecular disease control and, in selected patients, sustained deep molecular response and treatment-free remission. This study evaluated the demographic, clinical, and molecular response profiles of patients with Ph + CML treated with first- and second-line TKIs at the Fundação Hospitalar de Hematologia e Hemoterapia do Amazonas (HEMOAM).

This retrospective, longitudinal study analyzed medical records of 176 patients diagnosed with Ph + CML between 2011 and 2020. Demographic characteristics, clinical data, and laboratory findings were extracted from medical records. Longitudinal molecular response was assessed in patients with available BCR::ABL1 monitoring.

Among the 176 patients identified, 122 were included in the analysis of treatment outcomes. The mean age at diagnosis was 49.6 years, with a slight male predominance. Most patients were diagnosed in the chronic phase, and high-risk Sokal score was the most frequent prognostic category among evaluable cases. The e14a2 (b3a2) transcript was the most prevalent molecular subtype. Clinically meaningful molecular responses were observed in both first- and second-line treatment settings, although response assessment was influenced by real-world constraints, including incomplete molecular monitoring and heterogeneous follow-up.

These findings provide real-world insights into the epidemiological, clinical, and molecular response characteristics of Ph + CML patients treated in the Amazon region. The study highlights the challenges of implementing guideline-based molecular monitoring in geographically constrained settings and supports the need for adapted strategies to optimize long-term CML management in routine clinical practice.