BJH - volume 3, issue 3, september 2012
E. Del Biondo MD, H. De Raeve MD, PhD, G. Huysmans MD, K. Hendrickx MD, E. Wouters MD, P. Vandenberghe MD, PhD, P. Meeus MD
The coincidence of a Janus Kinase 2 (JAK2) V617F positive myeloproliferative neoplasm (MPN) and a BCR-ABL1 positive chronic myeloid leukaemia (CML) is rare. We present a patient whose bone marrow and peripheral blood showed typical features of essential thrombocytemia (ET). However, the normalisation of the white blood cell (WBC) count after therapy with imatinib for a gastrointestinal stromal tumour (GIST) suggests that an underlying CML was masked, as witnessed by the very low levels of BCR-ABL1 at the haematological diagnosis. The question remains if this is a case of two separate myeloid malignancies or a secondary event (BCR-ABL1 fusion) in a primary JAK2 V617F + ET.
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