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 d...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.展开更多
骨髓增殖性肿瘤(myeloproliferative neoplasms,MPN)导致血细胞增加、血液高凝,是非肝硬化门静脉海绵样变性的重要病因。JAK2V617F基因突变可以帮助诊断MPN。我们报道1例JAK2V617F基因突变阳性的MPN患者发生门静脉海绵样变性(cavernous ...骨髓增殖性肿瘤(myeloproliferative neoplasms,MPN)导致血细胞增加、血液高凝,是非肝硬化门静脉海绵样变性的重要病因。JAK2V617F基因突变可以帮助诊断MPN。我们报道1例JAK2V617F基因突变阳性的MPN患者发生门静脉海绵样变性(cavernous transformation of the portal vein,CTPV)。该例患者脾脏显著肿大,一方面是由于骨髓增殖性疾病本身的原因,另一方面是由于PVCT、门脉高压和脾脏淤血造成,表现为外周血血细胞计数基本在正常范围,亦是血细胞增殖和脾脏对血细胞的处理增加的共同作用的结果。抗凝治疗效果差,而应以预防食管曲张静脉破裂出血(EVB)为主。展开更多
文摘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.
文摘骨髓增殖性肿瘤(myeloproliferative neoplasms,MPN)导致血细胞增加、血液高凝,是非肝硬化门静脉海绵样变性的重要病因。JAK2V617F基因突变可以帮助诊断MPN。我们报道1例JAK2V617F基因突变阳性的MPN患者发生门静脉海绵样变性(cavernous transformation of the portal vein,CTPV)。该例患者脾脏显著肿大,一方面是由于骨髓增殖性疾病本身的原因,另一方面是由于PVCT、门脉高压和脾脏淤血造成,表现为外周血血细胞计数基本在正常范围,亦是血细胞增殖和脾脏对血细胞的处理增加的共同作用的结果。抗凝治疗效果差,而应以预防食管曲张静脉破裂出血(EVB)为主。
