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An increase in diagnostic JAK2 V617F mutation testing: Is masked polycythaemia vera the explanantion?

Published:April 02, 2018DOI:https://doi.org/10.1016/j.ejim.2018.03.017
      It is now nearly two years since the publication of the 2016 revision to the World Health Organization (WHO) classification of myeloid neoplasms and acute leukemia [
      • Arber D.A.
      • Orazi A.
      • Hasserjian R.
      • Thiele J.
      • Borowitz M.J.
      • Le Beau M.M.
      • et al.
      The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia.
      ] with one of the most controversial updates being the revised criteria for the myeloproliferative neoplasm (MPN) of polycythaemia vera (PV). The new major criteria for PV included a lowering of the diagnostic haemoglobin level (Hb; >16.5 g/dL in men and > 16.0 g/dL in women) and haematocrit (HCT; >49% in men and >48% in women) and the inclusion of bone marrow morphological features, in addition to the presence of a JAK2 V617F or exon 12 mutation. The rationale behind these changes was to capture those patients with masked PV (mPV) in whom the myeloproliferation is hidden due an iron deficiency that results in a normal or near normal Hb level or HCT [
      • Barbui T.
      • Thiele J.
      • Gisslinger H.
      • Finazzi G.
      • Carobbio A.
      • Rumi E.
      • et al.
      Masked polycythemia vera (mPV): results of an international study.
      ]. Reproducibility of these criteria has been subsequently validated [
      • Kvasnicka H.M.
      • Orazi A.
      • Thiele J.
      • Barosi J.
      • Bueso-Ramos C.E.
      • Vannucchi A.M.
      • et al.
      European LeukemiaNet study on the reproducibility of bone marrow features in masked polycythemia vera and differentiation from essential thrombocythemia.
      ,
      • Misawa K.
      • Yasuda H.
      • Araki M.
      • Ochiai T.
      • Morishita S.
      • Nudejima M.
      • et al.
      The 2016 WHO diagnostic criteria for polycythemia vera renders an accurate diagnosis to a broader range of patients including masked polycythemia vera: comparison with the 2008 WHO diagnostic criteria.
      ]. One concern with reducing the threshold for Hb and HCT as compared to previous guideline levels was that these new criteria may lead to unnecessary and costly molecular investigations in a significant proportion of the healthy population [
      • Busque L.
      • Porwit A.
      • Day R.
      • Olney H.J.
      • Leber B.
      • Éthier V.
      • et al.
      Laboratory investigation of myeloproliferative neoplasms (MPNs): recommendations of the Canadian MPN group.
      ,
      • Sandes A.F.
      • Gonçalves M.V.
      • Chauffaille M.L.
      Frequency of polycythemia vera in individuals with normal complete blood cell counts according to the new 2016 WHO classification of myeloid neoplasms.
      ].

      Keywords

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