Case Report

International Journal of Hematology

, Volume 91, Issue 1, pp 136-139

First online:

A man with concomitant polycythaemia vera and chronic myeloid leukemia: the dynamics of the two disorders

  • Ping Chong BeeAffiliated withDepartment of Medicine, Faculty of Medicine, University of Malaya Email author 
  • , G. G. GanAffiliated withDepartment of Medicine, Faculty of Medicine, University of Malaya
  • , V. S. NadarajanAffiliated withDepartment of Pathology, Faculty of Medicine, University of Malaya
  • , N. A. LatiffAffiliated withDepartment of Medicine, Faculty of Medicine, University of Malaya
  • , N. MenakaAffiliated withDepartment of Pathology, Faculty of Medicine, University of Malaya

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Abstract

The co-occurrence of JAK2 V617F mutation with BCR-ABL reciprocal translocation is uncommon. We report a 60-year-old man who initially presented with phenotype of polycythemia vera (PV), which evolved into chronic myeloid leukemia and back to PV once treatment with imatinib was commenced. JAK2 V617F mutation and BCR-ABL fusion transcripts were detected in the initial sample. However, JAK2 V617F alleles diminished when BCR-ABL mRNA burden increased and reappeared once the patient was commenced on imatinib. The dynamic interaction between JAK2 V617F and BCR-ABL implies that two independent clones exist with the JAK2 V617F clone only achieving clonal dominance when BCR-ABL positive clones are suppressed by imatinib.

Keywords

Chronic myeloid leukemia Polycythemia vera Bcr-Abl JAK2 V617F mutation Stem cell