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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