Xia Yongming, Hong Qingxiao, Gao Zhibin, Wang Shijun, Duan Shiwei
Department of Hematology, Yuyao People's Hospital, Yuyao, Zhejiang 315400, P.R. China.
Medical Genetics Center, School of Medicine at Ningbo University, Ningbo, Zhejiang 315211, P.R. China.
Exp Ther Med. 2021 Mar;21(3):193. doi: 10.3892/etm.2021.9625. Epub 2021 Jan 7.
Familial myeloproliferative disease (MPD) cases account for 7.6% of the global MPD cases. The present study reported 2 cases of primary myelofibrosis (PMF). The patients were two sisters; the older sister succumbed to the disease at the age of 37, whereas the younger sister maintained a stable disease status and gave birth to a son through fertilization. Genetic analysis of bone marrow DNA samples showed that both sisters carried a Janus kinase 2 (JAK2) V617F mutation, and the older sister also had a trisomy 8 chromosomal abnormality (47, XX, +8). A systematic literature search was also performed using PubMed, CNKI and Wanfang databases, to determine the association between JAK2 and PMF. Following comprehensive screening of the published literature, 19 studies were found to be eligible for the current meta-analysis. The results showed that JAK2 V617F was a risk factor of PMF, and no sex dimorphism was observed in JAK2 V617F mutation prevalence amongst all PMF cases. In addition, there was a lack of association between the JAK2 V617F mutation and PMF-related mortality.
家族性骨髓增殖性疾病（MPD）病例占全球MPD病例的7.6%。本研究报告了2例原发性骨髓纤维化（PMF）。患者为两姐妹；姐姐37岁时死于该病，而妹妹病情保持稳定，并通过受精生下一个儿子。对骨髓DNA样本进行的基因分析表明，两姐妹均携带Janus激酶2（JAK2）V617F突变，姐姐还存在8号染色体三体异常（47, XX, +8）。还使用PubMed、CNKI和万方数据库进行了系统的文献检索，以确定JAK2与PMF之间的关联。在对已发表文献进行全面筛选后，发现有19项研究符合当前的荟萃分析条件。结果表明，JAK2 V617F是PMF的一个危险因素，在所有PMF病例中，JAK2 V617F突变患病率未观察到性别差异。此外，JAK2 V617F突变与PMF相关死亡率之间缺乏关联。
