title: The role of serum erythropoietin level and JAK2 V617F allele burden in the diagnosis of polycythaemia vera.
abstract: Low serum erythropoietin (EPO) is a minor criterion of Polycythaemia Vera (PV) but its diagnostic usefulness relies on studies performed before the discovery of JAK2 V617F mutation. The objective of the present study was to evaluate the diagnostic accuracy of serum EPO and JAK2 V617F allele burden as markers of PV as well as the combination of different diagnostic criteria in 287 patients (99 with PV, 137 with Essential Thrombocythaemia and 51 with non-clonal erythrocytosis). Low EPO showed good diagnostic accuracy as a marker for PV, with the area under the curve (AUC) of the chemiluminescent-enhanced enzyme immunoassay (CEIA) being better than that of radioimmunoassay (RIA) (0·87 and 0·76 for CEIA and RIA, respectively). JAK2 V617F quantification displayed an excellent diagnostic accuracy, with an AUC of 0·95. A haematocrit >52% (males) or >48% (females) plus the presence of the JAK2 V617F mutation had a sensitivity and specificity of 79% and 97%, respectively. Adding low EPO or the JAK2 V617F allele burden did not improve the diagnostic accuracy for PV whereas the inclusion of both improved the sensitivity up to 83% and maintaining 96% specificity. Haematocrit and qualitative JAK2 V617F mutation allow a reliable diagnosis of PV. Incorporation of EPO and/or JAK2 V617F mutant load does not improve the diagnostic accuracy.
authors.affiliation: Haematology Department, Hospital del Mar-IMIM, Universitat Autònoma de Barcelona, Barcelona, Spain.
authors.forename: Agueda
authors.initials: A
authors.lastname: Ancochea
authors.forename: Alberto
authors.initials: A
authors.lastname: Alvarez-Larrán
authors.forename: Cristian
authors.initials: C
authors.lastname: Morales-Indiano
authors.forename: Francesc
authors.initials: F
authors.lastname: García-Pallarols
authors.forename: Luz
authors.initials: L
authors.lastname: Martínez-Avilés
authors.forename: Anna
authors.initials: A
authors.lastname: Angona
authors.forename: Alicia
authors.initials: A
authors.lastname: Senín
authors.forename: Beatriz
authors.initials: B
authors.lastname: Bellosillo
authors.forename: Carles
authors.initials: C
authors.lastname: Besses
mesh_terms: D000483:Alleles; D019943:Amino Acid Substitution; D019540:Area Under Curve; D015415:Biomarkers; D003937:Diagnosis, Differential; D004921:Erythropoietin / Q000097:blood*; D005260:Female; D006400:Hematocrit; D006454:Hemoglobins / Q000032:analysis; D006801:Humans; D053614:Janus Kinase 2 / Q000235:genetics*; D007958:Leukocyte Count; D008297:Male; D020125:Mutation, Missense; D010976:Platelet Count; D017354:Point Mutation; D011086:Polycythemia / Q000175:diagnosis; D011087:Polycythemia Vera / Q000097:blood / Q000175:diagnosis* / Q000235:genetics; D012372:ROC Curve; D015203:Reproducibility of Results; D012680:Sensitivity and Specificity; D013920:Thrombocythemia, Essential / Q000175:diagnosis
chemical_list: D015415:Biomarkers; C554270:EPO protein, human; D006454:Hemoglobins; D004921:Erythropoietin; C507924:JAK2 protein, human; D053614:Janus Kinase 2
keywords: diagnostic criteria; erythrocytosis; erythropoietin; essential thrombocythaemia; polycythaemia vera