Revisiting Diagnostic performances of serum erythropoïetin level and JAK2 mutation for polycythemias: analysis of a cohort of 1090 patients with red cell mass measurement

Br J Haematol. 2022 Feb;196(3):676-680. doi: 10.1111/bjh.17848. Epub 2021 Sep 25.

Abstract

We assessed the diagnostic performances of erythropoietin and JAK2 mutations in 1,090 patients with suspected polycythemia who were referred for red cell mass (RCM) measurement. In patients with a high haematocrit and/or haemoglobin level, a low erythropoietin level (<=3·3 mUI/ml) and JAK2 mutation showed comparable positive predictive value (PPV) for true polycythemia (RCM>=125%), 92·1% and 90% respectively. A very-low erythropoietin level (<=1·99 mUI/ml) had a PPV of 100% for polycythemia vera (PV) diagnosis. We confirmed the correlations between RCM, erythropoietin and JAK2 variant allelic frequency in PV patients. This study prompts the need to revisit the role of EPO in PV diagnostic criteria.

Keywords: JAK2; erythropoietin; myeloproliferative neoplasms (MPN); polycythemia; red cell mass.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles
  • Amino Acid Substitution
  • Clinical Decision-Making
  • Disease Management
  • Erythrocyte Indices
  • Erythrocyte Volume
  • Erythropoietin / blood*
  • Gene Frequency
  • Genetic Association Studies
  • Genetic Predisposition to Disease
  • Humans
  • Janus Kinase 2 / genetics*
  • Mutation*
  • Plasma Volume
  • Polycythemia Vera / blood*
  • Polycythemia Vera / diagnosis
  • Polycythemia Vera / epidemiology
  • Polycythemia Vera / genetics*
  • Sensitivity and Specificity

Substances

  • Erythropoietin
  • JAK2 protein, human
  • Janus Kinase 2