title: Discriminating between essential thrombocythemia and masked polycythemia vera in JAK2 mutated patients.
abstract: In patients not meeting the required hematocrit (HCT) or hemoglobin (Hb) thresholds according to BCSH and the WHO diagnostic criteria, the diagnosis of masked polycythemia vera (mPV) has been proposed. A comparison of HCT or Hb values with the expression of JAK2V617F, JAK2 exon 12, and CALR mutations in strictly WHO-defined 257 overt PV and 140 mPV (59 mPV according to BCSH) and 397 patients with essential thrombocythemia (ET) was performed. Hb and HCT thresholds of mPV patients were significantly higher than JAK2V617F ET (P < 0.0001). The best cut-off for Hb to discriminate JAK2-mutated ET from PV was 16.5 g/dL for males and 16.0 g/dL for females. For HCT, this was 49% in males and 48% in females. The proportion of patients correctly classified as ET or PV when regarding Hb or HCT levels was 95% in males and 93% in females and 94% in both males and females, respectively.
authors.affiliation: Research Foundation, Papa Giovanni XXIII Hospital, Bergamo, Italy; Division of Hematology, Papa Giovanni XXIII Hospital, Bergamo, Italy.
authors.forename: Tiziano
authors.initials: T
authors.lastname: Barbui
authors.forename: Jürgen
authors.initials: J
authors.lastname: Thiele
authors.forename: Alessandra
authors.initials: A
authors.lastname: Carobbio
authors.forename: Paola
authors.initials: P
authors.lastname: Guglielmelli
authors.forename: Alessandro
authors.initials: A
authors.lastname: Rambaldi
authors.forename: Alessandro M
authors.initials: AM
authors.lastname: Vannucchi
authors.forename: Ayalew
authors.initials: A
authors.lastname: Tefferi
mesh_terms: D003937:Diagnosis, Differential; D005260:Female; D006400:Hematocrit; D006454:Hemoglobins / Q000235:genetics / Q000378:metabolism; D006801:Humans; D053614:Janus Kinase 2 / Q000235:genetics*; D008297:Male; D009154:Mutation; D011087:Polycythemia Vera / Q000097:blood / Q000175:diagnosis* / Q000201:enzymology / Q000235:genetics; D012737:Sex Factors; D013920:Thrombocythemia, Essential / Q000097:blood / Q000175:diagnosis* / Q000201:enzymology / Q000235:genetics
chemical_list: D006454:Hemoglobins; C507924:JAK2 protein, human; D053614:Janus Kinase 2