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We introduce a 78-year-old woman presented with thrombocytosis and high blast count who had a history of splenectomy. Her cytogenetic analysis revealed aberrant chromosomal rearrangements in different clonal populations harboring 46XX karyotype with t(9;22) (q34;q11). RT-PCR assay detected the e1a2  BCR-ABL  translocation resulting from rearrangement of the minor breakpoint cluster region (m-bcr) in  BCR  gene. Subsequent evaluation of the disease showed calreticulin ( CALR ) 52-bp deletion as well as the absence of  JAK2  V617F  heterozygous mutation in granulocyte population of peripheral blood using allele-specific PCR and bi-directional DNA sequencing. To our knowledge, this is the first case of a patient initially diagnosed as p190  BCR-ABL  transcript positive CML in blast crisis characterized by a 52-bp deletion in  CALR  gene.

Coexistence of P190 BCR/ABL transcript and CALR 52-bp deletion in chronic myeloid leukemia blast crisis: a case report