Leucemia mieloide crónica asociada a alteraciones citogenéticas: reporte de caso

Abstract

Background: Chronic Myeloid Leukemia (CML) represents a clinical challenge characterized by the presence of the Philadelphia chromosome (Ph), resulting from the fusion of the BCR-ABL1 gene, detected in more than 90% of cases. Patients with additional cytogenetic alterations present resistance to treatment and an unfavorable prognosis despite advances with tyrosine kinase inhibitors, such as Imatinib, which have improved survival. Intervention with Imatinib effectively reduced malignant cell proliferation in a specific case, with a duplication of the Philadelphia chromosome. Case presentation: A 27-year-old male patient presents with distress, diaphoresis, progressive asthenia, and dizziness over four months, hindering his daily activities. Tests reveal leukocytosis with a clear myeloid predominance. Improvement in initial symptoms is observed after five months of treatment. Conclusions: The importance of monitoring cytogenetic alterations, such as double Philadelphia chromosome, in Chronic Myeloid Leukemia (CML) is emphasized. Although improvement is observed in the patient's hematological values, the molecular response decreased to 5% of the initial value, indicating a good prognosis in treatment despite not achieving the expected outcome. Increasing the Imatinib dosage to 600 mg in modified treatment generates positive expectations. The information scarcity highlights the need for continuous research to advance the treatment of CML and its cytogenetic variants