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

najmaldin saki, Mohammad Seghatoleslami, Neda Ketabchi, Alireza Ordo, Javad Mohammadi-Asl, Neda Golchin
  • najmaldin saki
    Health research institute, Research Center of Thalassemia & Hemoglobinopathy, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran., Iran, Islamic Republic of | najmaldinsaki@gmail.com
  • Mohammad Seghatoleslami
    Affiliation not present
  • Neda Ketabchi
    Affiliation not present
  • Alireza Ordo
    Affiliation not present
  • Javad Mohammadi-Asl
    Affiliation not present
  • Neda Golchin
    Affiliation not present

Abstract

We present a case of 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 a rearrangement of the minor breakpoint cluster region (m-bcr) in the BCR gene. Subsequent evaluations of the disease showed calreticulin (CALR) 52-bp deletion as well as the absence of JAK2V617F 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 blastic crisis characterized with a 52-bp deletion in CALR gene.  

Keywords

Chronic myeloid leukemia, BCR-ABL, Calreticulin.

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Submitted: 2015-09-18 20:06:14
Published: 2016-01-01 00:00:00
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