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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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Funding: Supported by the Committee for Scientific Research, Republic of Poland, grant no 3 P05B 084 24.
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Competing interests: None declared.
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