原发性骨髓纤维化患者中 JAK2 V617F、MPL W515L 和 JAK2 外显子 12 突变。
JAK2 V617F, MPL W515L and JAK2 Exon 12 Mutations in Chinese Patients with Primary Myelofibrosis.
机构信息
Department of Hematology, Wuxi People's Hospital, Nanjing Medical University, Wuxi 214023, China.
出版信息
Chin J Cancer Res. 2012 Mar;24(1):72-6. doi: 10.1007/s11670-012-0072-4.
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.
目的
JAK2 V617F、MPL W515L 和 JAK2 外显子 12 突变是新型获得性突变，可在骨髓增生性疾病（MPD）中诱导 JAK-STAT 通路的组成性细胞因子非依赖性激活。这些突变的发现为造血恶性肿瘤中信号转导的激活提供了新的机制。本研究旨在调查这些突变在中国原发性骨髓纤维化（PMF）患者中的发生率。
方法
我们采用等位基因特异性 PCR（AS-PCR）联合序列分析，同时筛查 30 例 PMF 患者的 JAK2 V617F、MPL W515L 和 JAK2 外显子 12 突变。
结果
15 例 PMF 患者（50.0%）携带 JAK2 V617F 突变，仅 2 例 JAK2 V617F 阴性患者（6.7%）携带 MPL W515L 突变。无 JAK2 外显子 12 突变。此外，这三种突变在 50 名健康对照中均未检出。
结论
MPL W515L 和 JAK2 V617F 突变存在于 PMF 患者中，但 JAK2 外显子 12 突变不存在。JAK2 V617F 和 MPL W515L 突变可能导致 PMF 患者的主要分子发病机制。
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