Amplification of the BCR/ABL fusion gene clustered on a masked Philadelphia chromosome in a patient with myeloblastic crisis of chronic myelocytic leukemia.
Although the chronic phase of chronic myelocytic leukemia (CML) is characterized by the Philadelphia (Ph) chromosome creating a hybrid BCR/ABL gene, additional genetic changes involved in blast crisis are poorly understood. We report a 4-8-fold amplification by tandem duplication of the BCR/ABL fusion gene clustered on a masked Ph chromosome in a 61-year-old male patient with CML in myeloblastic crisis. Our finding suggests that the BCR/ABL amplification may play a role as a novel mechanism in the progression to an aggressive blast transformation in some cases of Ph-positive CML.
Departamento de Genética, Academia Nacional de Medicina de Buenos Aires, Buenos Aires, Argentina., ,
MeSHFusion Proteins, bcr-abl
In Situ Hybridization, Fluorescence
Leukemia, Myelogenous, Chronic, BCR-ABL Positive
Pub Type(s)Case Reports