Chronic myeloid leukemia in an adolescent: report of an unusual case

Leucemia mieloide crónica en una adolescente: reporte de un caso poco habitual

Introduction: Chronic myeloid leukemia (CML) is a hematological disease that is infrequent in the pediatric population, representing only 2-3% of leukemias in children. This neoplasm is characterized by the t(9;22) translocation whose detection confirms the diagnosis. In pediatric patients tend to be more aggressive compared to adults. Clinical case: A 13-year-old female patient presents with increased abdominal circumference, generalized pallor, and unquantified weight loss over two months. On physical examination, hepatomegaly, splenomegaly, and pallor are observed. Laboratory tests reveal leukocytosis of 728,470 cells/mm3, hemoglobin of 7.6 g/dL, neutrophils at 90%, and platelets at 474,000 cells/mm3. Studies confirm chronic myeloid leukemia in the chronic phase. Discussion: CML, caused by the t(9;22) translocation, is characterized by the fusion of the BCR-ABL gene, which transforms hematopoietic stem cells into leukemic cells. This translocation activates tyrosine kinase, driving the disease. In pediatric patients, clinical manifestations are often more severe, with higher rates of anemia, significant leukocytosis, and splenomegaly. Diagnosis is confirmed by detecting BCR-ABL1 through PCR, FISH, or cytogenetic analysis. The treatment of choice is tyrosine kinase inhibitors, with Imatinib being the most used.