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

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...

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Bibliographic Details
Published in:International journal of hematology 2010-01, Vol.91 (1), p.136-139
Main Authors: Bee, Ping Chong, Gan, G. G., Nadarajan, V. S., Latiff, N. A., Menaka, N.
Format: Article
Language:English
Subjects:
Antineoplastic Agents - therapeutic use
Benzamides
Biological and medical sciences
Case Report
Chromosome aberrations
Disease Progression
Diseases of red blood cells
Fusion Proteins, bcr-abl - genetics
Hematologic and hematopoietic diseases
Hematology
Humans
Imatinib Mesylate
Janus Kinase 2 - genetics
Leukemia, Myelogenous, Chronic, BCR-ABL Positive - complications
Leukemia, Myelogenous, Chronic, BCR-ABL Positive - drug therapy
Leukemia, Myelogenous, Chronic, BCR-ABL Positive - genetics
Leukemias. Malignant lymphomas. Malignant reticulosis. Myelofibrosis
Male
Medical genetics
Medical sciences
Medicine
Medicine & Public Health
Middle Aged
Oncology
Piperazines - therapeutic use
Polycythemia Vera - complications
Polycythemia Vera - genetics
Polycythemias
Pyrimidines - therapeutic use
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Summary: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.
ISSN:0925-5710
1865-3774
DOI:10.1007/s12185-009-0471-6