Revisiting Diagnostic performances of serum erythropoïetin level and JAK2 mutation for polycythemias: analysis of a cohort of 1090 patients with red cell mass measurement.
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
Sensitivity and Specificity
JAK2
erythropoietin
myeloproliferative neoplasms (MPN)
polycythemia
red cell mass
Journal
British journal of haematology
ISSN: 1365-2141
Titre abrégé: Br J Haematol
Pays: England
ID NLM: 0372544
Informations de publication
Date de publication:
02 2022
02 2022
Historique:
revised:
19
08
2021
received:
24
06
2021
accepted:
09
09
2021
pubmed:
26
9
2021
medline:
15
2
2022
entrez:
25
9
2021
Statut:
ppublish
Résumé
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.
Substances chimiques
Erythropoietin
11096-26-7
JAK2 protein, human
EC 2.7.10.2
Janus Kinase 2
EC 2.7.10.2
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
676-680Informations de copyright
© 2021 British Society for Haematology and John Wiley & Sons Ltd.
Références
Barbui T, Thiele J, Gisslinger H, Finazzi G, Vannucchi AM, Tefferi A. The 2016 revision of WHO classification of myeloproliferative neoplasms: Clinical and molecular advances. Blood Rev. 2016;30(6):453-9.
Gangat N, Szuber N, Pardanani A, Tefferi A. JAK2 unmutated erythrocytosis: current diagnostic approach and therapeutic views. Leukemia. 2021;35(8):2166-81.
Mossuz P, Girodon F, Donnard M, Latger-Cannard V, Dobo I, Boiret N, et al. Diagnostic value of serum erythropoietin level in patients with absolute erythrocytosis. Haematologica. 2004;89(10):1194-8.
Lippert E, Boissinot M, Kralovics R, Girodon F, Dobo I, Praloran V, et al. The JAK2-V617F mutation is frequently present at diagnosis in patients with essential thrombocythemia and polycythemia vera. Blood. 2006;108(6):1865-7.
Ancochea A, Alvarez-Larrán A, Morales-Indiano C, García-Pallarols F, Martínez-Avilés L, Angona A, et al. The role of serum erythropoietin level and JAK2 V617F allele burden in the diagnosis of polycythaemia vera. Br J Haematol. 2014;167(3):411-7.
Barbui T, Thiele J, Carobbio A, Gisslinger H, Finazzi G, Rumi E, et al. Masked polycythemia vera diagnosed according to WHO and BCSH classification. Am J Hematol. 2014;89(2):199-202.
Silver RT, Krichevsky S, Gjoni S, Cross NCP. Evaluation of serum erythropoietin values as defined by 2016 World Health Organization criteria for the diagnosis of polycythemia vera. Leuk Lymphoma. 2017;58(11):2768-9.
Lupak O, Han X, Xie P, Mahmood S, Mohammed H, Donthireddy V. The role of a low erythropoietin level for the polycythemia vera diagnosis. Blood Cells Mol Dis. 2020;80:102355.
Pearson TC, Guthrie DL, Simpson J, Chinn S, Barosi G, Ferrant A, et al. Interpretation of measured red cell mass and plasma volume in adults: Expert Panel on Radionuclides of the International Council for Standardization in Haematology. Br J Haematol. 1995;89(4):748-56.
Ugo V, Tondeur S, Menot M-L, Bonnin N, Le Gac G, Tonetti C, et al. Interlaboratory development and validation of a HRM method applied to the detection of JAK2 Exon 12 mutations in polycythemia vera patients. PLoS ONE. 2010;5(1):e8893.
Grenier M, Callegarin D, Nughe M, Gardie B, Riedinger JM, Girodon F. Can absolute polycythaemia be identified without measurement of the red cell mass? Br J Haematol. 2020;190(2):e107-10.
Maslah N, Verger E, Schlageter M-H, Miclea J-M, Kiladjian J-J, Giraudier S, et al. Next-generation sequencing for JAK2 mutation testing: advantages and pitfalls. Ann Hematol. 2019;98(1):111-8.
Kouroupi E, Cassinat B, Schlageter M-H, Dosquet C, Kiladjian J-J, Chomienne C. Coexistence of a myeloproliferative disorder and secondary polycythemia in the same patient. Am J Hematol. 2012;87(6):646.
Dupont S, Massé A, James C, Teyssandier I, Lécluse Y, Larbret F, et al. The JAK2 617V>F mutation triggers erythropoietin hypersensitivity and terminal erythroid amplification in primary cells from patients with polycythemia vera. Blood. 2007;110(3):1013-21.
Vannucchi AM, Antonioli E, Guglielmelli P, Longo G, Pancrazzi A, Ponziani V, et al. Prospective identification of high-risk polycythemia vera patients based on JAK2(V617F) allele burden. Leukemia. sept. 2007;21(9):1952-9.