Skip to main content
SpringerLink
Log in

JAK2 V617F mutation is rare in idiopathic erythrocytosis: a difference from polycythemia vera

  • Original Article
  • Published:
International Journal of Hematology Aims and scope Submit manuscript

Abstract

A single mutation 1849G>T in the JAK2 gene (V617F) has recently been described in classical myeloproliferative disorders (MPD). To investigate the incidence and clinical significance of the JAK2 mutation, we performed allele-specific polymerase chain reaction (PCR) and enzyme-based assessment in 11 idiopathic erythrocytosis (IE) and 15 polycythemia vera (PV) patients. Aberrant bands indicating the V617F mutation were detected in only one of 11 patients with IE, whereas all of the 15 patients with PV showed the JAK2 mutation. Sequence analysis was subsequently performed in the IE patient showing aberrant bands on allele-specific PCR, and a nucleotide change corresponding to the V617F mutation was detected in four of 29 clones tested. This patient might have progressed to PV according to the new WHO diagnostic criteria proposed in 2007, since a gradual increase in platelet counts was observed 4 years after the time of diagnosis. A further longitudinal study monitoring V617F positive-cells will clarify the process of progression from IE to PV in such a patient.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Fig. 1
Fig. 2
Fig. 3

Similar content being viewed by others

References

  1. Ihle JN, Gilliland DG. Jak2: normal function and role in hemotopoietic disorders. Curr Opin Genet Dev. 2007;17:8–14.

    Article  CAS  PubMed  Google Scholar 

  2. Baxter EJ, Scott LM, Cambell PJ, et al. Acquired mutation of tyrosine kinase JAK2 in human myeloproliferative disorders. Lancet. 2005;365:1054–61.

    Article  CAS  PubMed  Google Scholar 

  3. Kralovics R, Passamonti F, Buser AS, et al. A gain-of-function mutation of JAK2 in myeloploliferative disorders. N Engl J Med. 2005;352:1779–90.

    Article  CAS  PubMed  Google Scholar 

  4. Cambell PJ, Scott LM, Buck G, et al. Definition of subtypes of essential thrombocythaemia and relation to polythaemia vera based JAK2 V617F muatation status: a prospective study. Lancet. 2005;366:1945–53.

    Article  Google Scholar 

  5. Levine RL, Wadleigh M, Cool J, et al. Activating mutation in the tyrosine kinase JAK2 in polycythemia vera, essential thrombocythemia and myeloid metaplasia with myelofibrosis. Cancer Cell. 2005;7:387–97.

    Article  CAS  PubMed  Google Scholar 

  6. Tefferi A, Thiele J, Orazi A, et al. Proposals and rationale for revision of the world health organization diagnostic criteria for polycythemia vera, essential thrombocythemia, and primary myelofibrosis: recommendations from an ad hoc international expert panel. Blood. 2007;110:1092–7.

    Article  CAS  PubMed  Google Scholar 

  7. McMuillin MF, Bareford D, Cambell P, et al. Guidelines for diagnosis, investigation and management of polycythaemia/erythrocytosis. Br J Haematol. 2005;130:174–95.

    Article  Google Scholar 

  8. Finazzi G, Gregg XT, Barbui T, et al. Idiopathic erythrocytosis and other non-clonal polycythemias. Best Pract Res Cl Hal. 2006;19:471–82.

    Article  Google Scholar 

  9. Blacklock HA, Royle GA. Idiopathic erythrocytosis—a declining entity. Br J Haematol. 2001;115:774–81.

    Article  CAS  PubMed  Google Scholar 

  10. Najean Y, Triebel F, Dresch C. Pure erythrocytosis: reappraisal of study of 51 cases. Am J Hematol. 1981;10:129–36.

    Article  CAS  PubMed  Google Scholar 

  11. Michiels IJ, Barbui T, Finazzi G, et al. Diagnosis and treatment of polycythemia vera and possible future study designs of the PVSG. Leuk Lymphoma. 2000;36:239–53.

    Article  CAS  PubMed  Google Scholar 

  12. Murphy S, Petersen P, Iland H, et al. Experience of the Polycythemia Vera study group with essential thrombocythemia: a final report on diagnostic criteria, suvival and leukemic transition by treatment. Semin Hematol. 1997;34:29–39.

    CAS  PubMed  Google Scholar 

  13. Pierre R, Imbert M, Thiele J, et al. Polycythaemia vera WHO classification of tumors, tumors of hematopietic and lymphoid tissues. Lyon: IARC Press; 2001. p. 32–4.

  14. Woodman RC, Reinhardt P, Kanwar S, et al. Effects of human neutrophil elastase (HNE) on neutrophil function function in vitro and in inflamed microvessels. Blood. 1993;82:2188–95.

    CAS  PubMed  Google Scholar 

  15. Scott LM, Tong W, Levine RL, et al. JAK2 exon 12 mutations in polycythrmia vera and idiopathephic erythrocytosis. N Engl J Med. 2007;356:459–68.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  16. Percy MJ, Jones FGC, Green AR, et al. The incidence of the JAK2 V617F mutation in patients with idiopathic erythrocytosis. Hematologica. 2006;91:413–4.

    CAS  Google Scholar 

  17. Rossi D, Cortini F, Deambrogi C, et al. Usefulness of JAK2V617F mutation in distinguishing idiopathic erythrocytosis from polycythemia. Leuk Res. 2007;31:97–101.

    Article  CAS  PubMed  Google Scholar 

  18. Modan B, Modan M. Benign erythrocytosis. British J Haematol. 1968;14:375–81.

    Article  Google Scholar 

  19. Pearson TC, Wethereley MG. The course and complications of idiopathic erythrocytosis. Clin Lab Hematol. 1979;1:189–96.

    Article  CAS  Google Scholar 

  20. Finazzi G, Ruggeri M, Marconi M, et al. The natural history of idiopathic erythrocytosis: a cohort study of 74 patients. Blood. 2004;104:421a

    Google Scholar 

  21. Williams DM, Kim AH, Rogers O, et al. Phenotypic variations and new mutations in JAK2 V617F-negative polycythemia vera, erythrocytosis, and idiopathic myelofibrosis. Exp Hematol. 2007;35:1641–6.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

Download references

Acknowledgments

This work was supported in part by a grant-in-aid from the International Research and Educational Institute for Integrated Medical Sciences (IREIIMS) of Tokyo Women’s Medical University. We would like to thank Mr. Yukihiro Horie and Miss Mizuho Fukusaki for the preparation of blood specimens.

Author information

Authors and Affiliations

  1. Department of Hematology, Tokyo Women’s Medical University, 8-1 Kawada-cho, Shinjuku-ku, Tokyo, 162-8666, Japan

    Kentaro Yoshinaga, Naoki Mori, Yan-hua Wang, Kaori Tomita, Masayuki Shiseki & Toshiko Motoji

Authors
  1. Kentaro Yoshinaga
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Naoki Mori
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Yan-hua Wang
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Kaori Tomita
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Masayuki Shiseki
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. Toshiko Motoji
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Naoki Mori.

About this article

Cite this article

Yoshinaga, K., Mori, N., Wang, Yh. et al. JAK2 V617F mutation is rare in idiopathic erythrocytosis: a difference from polycythemia vera. Int J Hematol 88, 82–87 (2008). https://doi.org/10.1007/s12185-008-0103-6

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s12185-008-0103-6

Keywords

Search

Navigation