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

作     者：Jun Xia Mi-ze Lu Yuan-qiang Jiang Guo-hua Yang Yun Zhuang Hong-li Sun Yun-feng Shen 

作者机构：Department of HematologyWuxi People's HospitalNanjing Medical UniversityWuxi 214023China 

出 版 物：《Chinese Journal of Cancer Research》 (中国癌症研究（英文版）)

年 卷 期：2012年第24卷第1期

页      面：72-76页

核心收录：

学科分类：0710[理学-生物学] 07[理学] 08[工学] 081105[工学-导航、制导与控制] 071007[理学-遗传学] 0811[工学-控制科学与工程] 

主　　题：Primary myelofibrosis JAK2 V617F MPL W515L JAK2 exon 12 mutation 

摘      要：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.