Liu Liu, Xiao Zhi-Jian
Institute of Hematology & Blood Diseases Hospital, Chinese Academy of Medical Sciences, Tianjin 300020, China.
Zhongguo Shi Yan Xue Ye Xue Za Zhi. 2011 Feb;19(1):239-43.
Classical BCR/ABL fusion gene negative myeloproliferative neoplasms (MPN), including polycythemia vera (PV), essential thrombocythemia (ET) and primary myelofibrosis (PMF), are clonal hematopoietic malignancies sharing in common origin in a multipotential hematopoietic stem cell. The phenotypic variability of the three entities can not be elucidated by JAK2V617F mutation only. Recent discoveries indicated that JAK2V617F allele burden, other mutated genes (such as TET2, ASXL1) and inherited predisposition can play roles in the complicated pathogenesis of MPN, which are summarized in this review.
经典的BCR/ABL融合基因阴性骨髓增殖性肿瘤(MPN),包括真性红细胞增多症(PV)、原发性血小板增多症(ET)和原发性骨髓纤维化(PMF),是起源于多能造血干细胞的克隆性造血恶性肿瘤。仅JAK2V617F突变无法解释这三种疾病实体的表型变异性。最近的研究发现表明,JAK2V617F等位基因负担、其他突变基因(如TET2、ASXL1)和遗传易感性在MPN复杂的发病机制中发挥作用,本综述对此进行了总结。