Chronic myeloproliferative neoplasms

Long-term follow-up of JAK2 exon 12 polycythemia vera: a French Intergroup of Myeloproliferative Neoplasms (FIM) study

Access options

Rent or Buy article

Get time limited or full article access on ReadCube.


All prices are NET prices.

Fig. 1: Prognostic impact of JAK2 exon 12 mutations.


  1. 1.

    Scott LM, Tong W, Levine RL, Scott MA, Beer PA, Stratton MR, et al. JAK2 exon 12 mutations in polycythemia vera and idiopathic erythrocytosis. N Engl J Med. 2007;356:459–68.

    CAS  Article  Google Scholar 

  2. 2.

    Zoi K, Cross NCP. Genomics of myeloproliferative neoplasms. J Clin Oncol. 2017;35:947–54.

    CAS  Article  Google Scholar 

  3. 3.

    Wang YL, Vandris K, Jones A, Cross NCP, Christos P, Adriano F, et al. JAK2 mutations are present in all cases of polycythemia vera. Leukemia. 2008;22:1289–1289.

    CAS  Article  Google Scholar 

  4. 4.

    Grisouard J, Li S, Kubovcakova L, Rao TN, Meyer SC, Lundberg P, et al. JAK2 exon 12 mutant mice display isolated erythrocytosis and changes in iron metabolism favoring increased erythropoiesis. Blood. 2016;128:839–51.

    CAS  Article  Google Scholar 

  5. 5.

    Yao H, Ma Y, Hong Z, Zhao L, Monaghan SA, Hu M-C, et al. Activating JAK2 mutants reveal cytokine receptor coupling differences that impact outcomes in myeloproliferative neoplasm. Leukemia. 2017;31:2122–31.

    CAS  Article  Google Scholar 

  6. 6.

    Godfrey AL, Chen E, Massie CE, Silber Y, Pagano F, Bellosillo B, et al. STAT1 activation in association with JAK2 exon 12 mutations. Haematologica. 2015;101:15–19.

    Article  Google Scholar 

  7. 7.

    Passamonti F, Elena C, Schnittger S, Skoda RC, Green AR, Girodon F, et al. Molecular and clinical features of the myeloproliferative neoplasm associated with JAK2 exon 12 mutations. Blood. 2011;117:2813–6.

    CAS  Article  Google Scholar 

  8. 8.

    Tefferi A, Lavu S, Mudireddy M, Lasho TL, Finke CM, Gangat N, et al. JAK2 exon 12 mutated polycythemia vera: Mayo-Careggi MPN Alliance study of 33 consecutive cases and comparison with JAK2 V617F mutated disease. Am J Hematol. 2018;93:E93–E96.

    Article  Google Scholar 

  9. 9.

    Cassinat B, Laguillier C, Gardin C, de Beco V, Burcheri S, Fenaux P, et al. Classification of myeloproliferative disorders in the JAK2 era: is there a role for red cell mass? Leukemia. 2007;22:452–3.

    Article  Google Scholar 

  10. 10.

    Alvarez-Larran A, Ancochea A, Angona A, Pedro C, Garcia-Pallarols F, Martinez-Aviles L, et al. Red cell mass measurement in patients with clinically suspected diagnosis of polycythemia vera or essential thrombocythemia. Haematologica. 2012;97:1704–7.

    Article  Google Scholar 

  11. 11.

    Pardanani A, Lasho TL, Finke C, Hanson CA, Tefferi A. Prevalence and clinicopathologic correlates of JAK2 exon 12 mutations in JAK2V617F-negative polycythemia vera. Leukemia. 2007;21:1960–3.

    CAS  Article  Google Scholar 

  12. 12.

    Kouroupi E, Zoi K, Parquet N, Zoi C, Kiladjian J-J, Grigoraki V, et al. Mutations in exon 12 of JAK2 are mainly found in JAK2 V617F-negative polycythaemia vera patients: correspondence. Br J Haematol. 2008;142:676–9.

    Article  Google Scholar 

  13. 13.

    Pietra D, Li S, Brisci A, Passamonti F, Rumi E, Theocharides A, et al. Somatic mutations of JAK2 exon 12 in patients with JAK2 (V617F)-negative myeloproliferative disorders. Blood. 2008;111:1686–9.

    CAS  Article  Google Scholar 

  14. 14.

    Yeh Y-M, Chen Y-L, Cheng H-Y, Su W-C, Chow N-H, Chen T-Y, et al. High percentage of JAK2 exon 12 mutation in asian patients with polycythemia vera. Am J Clin Pathol. 2010;134:266–70.

    CAS  Article  Google Scholar 

  15. 15.

    McKerrell T, Park N, Chi J, Collord G, Moreno T, Ponstingl H, et al. JAK2 V617F hematopoietic clones are present several years prior to MPN diagnosis and follow different expansion kinetics. Blood Adv. 2017;1:968–71.

    CAS  Article  Google Scholar 

  16. 16.

    Gerstung M, Jolly C, Leshchiner I, Dentro SC, Gonzalez S, Rosebrock D, et al. The evolutionary history of 2,658 cancers. Nature. 2020;578:122–8.

    CAS  Article  Google Scholar 

  17. 17.

    Blanche P, Dartigues J-F, Jacqmin-Gadda H. Estimating and comparing time-dependent areas under receiver operating characteristic curves for censored event times with competing risks. Stat Med. 2013;32:5381–97.

    Article  Google Scholar 

  18. 18.

    Tefferi A, Rumi E, Finazzi G, Gisslinger H, Vannucchi AM, Rodeghiero F, et al. Survival and prognosis among 1545 patients with contemporary polycythemia vera: an international study. Leukemia. 2013;27:1874–81.

    CAS  Article  Google Scholar 

  19. 19.

    Lakey MA, Pardanani A, Hoyer JD, Nguyen PL, Lasho TL, Tefferi A, et al. Bone marrow morphologic features in polycythemia vera with JAK2 exon 12 mutations. Am J Clin Pathol. 2010;133:942–8.

    Article  Google Scholar 

Download references


This work was supported in part by grants from the French National Institute of Cancer (FIMBANK, INCa BCB 2013). The authors thank the Brest Biological Resources Center BB-0033–00037 (“CRB Santé du CHRU de Brest”) for providing high-quality annotated samples. The authors thank Laurence Sanhes, Célia Belkhodjia, Pascale Cony-Makhoul, Jérôme Poirot, Valérie Bardet, Gandhi Damaj and Loïc Garçon for providing clinical and biological data of patients.

Author information




ST, DLP and VU conceived and designed the study. ST, FP, VU and DLP collected clinical data. JMC conceived and supervised the biological clinical database of FIMBANK. DLP, JR, ST, and VU analyzed and interpreted the data. DR, LLC, ST, DC, MM, BDR, LC, JCI, FB, CO, FG and JJK cared for the patients. DLP, ST and VU wrote the manuscript and OM, BC, JJK, JCI, EL and MH revised it critically.

Corresponding author

Correspondence to Damien Luque Paz.

Ethics declarations

Conflict of interest

The authors declare that they have no conflict of interest.

Additional information

Publisher’s note Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

Supplementary information

Rights and permissions

Reprints and Permissions

About this article

Verify currency and authenticity via CrossMark

Cite this article

Tondeur, S., Paul, F., Riou, J. et al. Long-term follow-up of JAK2 exon 12 polycythemia vera: a French Intergroup of Myeloproliferative Neoplasms (FIM) study. Leukemia (2020).

Download citation