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The JAK2 V617F mutation in Philadelphia-negative chronic myeloproliferative disorders
  1. Anastazja Stój1,
  2. Zbigniew Rudzki1,
  3. Jerzy Stachura1,
  4. Tomasz Sacha2,
  5. Sylwia Czekalska2
  1. 1Department of Pathomorphology, Collegium Medicum, Jagiellonian University, Kraków, Poland
  2. 2Department of Haematology, Collegium Medicum, Jagiellonian University, Kraków, Poland
  1. Correspondence to:
    Dr Zbigniew Rudzki
    Consultant Histopathologist, Department of Histopathology, Birmingham Heartlands Hospital, Bordesley Green East, Bordesley B9 5SS, Birmingham, UK; zbigniew.rudzki{at}heartofengland.nhs.uk

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Buccal epithelial cells are occasionally used as a source of supposedly non-neoplastic DNA in patients suffering from haematological malignancies. Formerly, Kralovics et al found the JAK2 V617F mutation in DNA derived from buccal swabs in only 2.2% of patients with Philadelphia-negative chronic myeloproliferative disorders (Ph− CMPD).1

We compared the JAK2 V617F mutational status in DNA derived from buccal swabs to that in DNA extracted from either bone marrow or peripheral blood in 35 Ph− CMPD patients, including five cases of polycythaemia vera (PV), five cases of chronic idiopathic myelofibrosis (CIMF) and 25 cases of essential thrombocythaemia (ET). Genomic DNA was isolated from buccal swabs immediately on collection and …

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