Chinese Journal of Cancer Research

, Volume 24, Issue 1, pp 72–76

JAK2 V617F, MPL W515L and JAK2 exon 12 mutations in Chinese patients with primary myelofibrosis

  • Jun Xia
  • Mi-ze Lu
  • Yuan-qiang Jiang
  • Guo-hua Yang
  • Yun Zhuang
  • Hong-li Sun
  • Yun-feng Shen
Original Article

DOI: 10.1007/s11670-012-0072-4

Cite this article as:
Xia, J., Lu, M., Jiang, Y. et al. Chin. J. Cancer Res. (2012) 24: 72. doi:10.1007/s11670-012-0072-4

Abstract

Objective

JAK2 V617F, MPL W515L and JAK2 exon 12 mutations are novel acquired mutations that induce constitutive cytokine-independent activation of the JAK-STAT pathway in myeloproliferative disorders (MPD). The discovery of these mutations provides novel mechanism for activation of signal transduction in hematopoietic malignancies. This research was to investigate their prevalence in Chinese patients with primary myelofibrosis (PMF).

Methods

We introduced allele-specific PCR (AS-PCR) combined with sequence analysis to simultaneously screen JAK2 V617F, MPL W515L and JAK2 exon 12 mutations in 30 patients with PMF.

Results

Fifteen PMF patients (50.0%) carried JAK2 V617F mutation, and only two JAK2 V617F-negative patients (6.7%) harbored MPL W515L mutation. None had JAK2 exon 12 mutations. Furthermore, these three mutations were not detected in 50 healthy controls.

Conclusion

MPL W515L and JAK2 V617F mutations existed in PMF patients but JAK2 exon 12 mutations not. JAK2 V617F and MPL W515L and mutations might contribute to the primary molecular pathogenesis in patients with PMF.

Key words

Primary myelofibrosisJAK2 V617FMPL W515LJAK2 exon 12mutation

Copyright information

© Chinese Anti-Cancer Association and Springer-Verlag Berlin Heidelberg 2012

Authors and Affiliations

  • Jun Xia
    • 1
  • Mi-ze Lu
    • 1
  • Yuan-qiang Jiang
    • 1
  • Guo-hua Yang
    • 1
  • Yun Zhuang
    • 1
  • Hong-li Sun
    • 1
  • Yun-feng Shen
    • 1
  1. 1.Department of Hematology, Wuxi People’s HospitalNanjing Medical UniversityWuxiChina