JAK2 V617F, MPL W515L and JAK2 Exon 12 Mutations in Chinese Patients with Primary Myelofibrosis.
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.


CONCLUSIONS
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.
Department of Hematology, Wuxi People's Hospital, Nanjing Medical University, Wuxi 214023, China.
Jun
J
Xia
Mi-Ze
MZ
Lu
Yuan-Qiang
YQ
Jiang
Guo-Hua
GH
Yang
Yun
Y
Zhuang
Hong-Li
HL
Sun
Yun-Feng
YF
Shen
JAK2 V617F; JAK2 exon 12; MPL W515L; Primary myelofibrosis; mutation