Variant p190 of the BCR-ABL1 gene in a pediatric patient with chronic myeloid leukemia
- International Journal of Family & Community Medicine
Araujo Carina,1 Flores-Angulo Carlos,2,3 Phyllis Siu,4 Bello Adriana5
Chronic myeloid leukemia is a clonal disease characterized by the overproduction of cells of the myeloid lineage, this entity affects mainly adults, describing a low frequency in the pediatric population. The development of the disease is due to the formation of the BCR-ABL1 fusion gene, the 190 kDa product being an infrequent finding. We present the case of an 11-year-old patient whose disease started 2 months before diagnosis, characterized by weight loss. Physical examination revealed parenchymal pallor and splenomegaly with an analytical test showing leukocytosis with the presence of myeloid precursors, for which morphological, cytogenetic and molecular study of bone marrow was performed. It was established the diagnosis of CML in chronic phase with the unusual presence of the transcript p190. Therefore, initial treatment with imatinib was indicated, showing a suboptimal response, being replaced by dasatinib, once a major molecular response was documented, a transplant of hematopoietic stem cells from a related compatible donor was scheduled. Currently the patient is 17 years old and molecular tests show that he is free of the disease.
chronic myeloid leukemia, hematopoietic stem cell transplantation, tyrosine kinase inhibitors, pediatrics, BCR-ABL1