Classical BCR-ABL-negative myeloproliferative neoplasms (MPN) include polycythaemia vera, essential thrombocythaemia and primary myelofibrosis. Unlike monogenic disorders, a more complicated series of genetic mutations are believed to be responsible for MPN with various degrees of thromboembolic and bleeding complications. Thrombosis is one of the early manifestations in patients with MPN. To date, the driver genes responsible for MPN include JAK2, CALR, MPL, TET2, ASXL1 and MTHFR. Affords have been done to elucidate these mutations and the incidence of thromboembolic events. Several lines of evidence indicate that mutations in JAK2, MPL, CALR, TET2 and ASXL1 gene and polymorphisms in several clotting factors (GPIa, GPIIa and GPIIIa) are associated with the occurrence and prevalence of thrombosis in MPN patients. Some polymorphisms within XRCC1, FBG, F2, F5, F7, F12, MMP9, HPA5, MTHFR, SDF-1, FAS, FASL, TERT, ACE and TLR4 genes may also play a role in MPN manifestation. This review aimed to provide an insightful overview on the genetic perspective of thrombotic complications in patients with MPN.

经典的BCR-ABL阴性骨髓增生性肿瘤（MPN）包括真性红细胞增多症，原发性血小板增多症和原发性骨髓纤维化。与单基因疾病不同，人们认为更复杂的一系列基因突变导致MPN伴有不同程度的血栓栓塞和出血并发症。血栓形成是MPN患者的早期表现之一。迄今为止，负责MPN的驱动基因包括JAK2，CALR，MPL，TET2，ASXL1和MTHFR。已经进行了Affords阐明这些突变和血栓栓塞事件的发生率。几条证据表明，JAK2，MPL，CALR，TET2和ASXL1中存在突变一些凝血因子（GPIa，GPIIa和GPIIIa）中的基因和多态性与MPN患者血栓形成的发生和流行有关。XRCC1，FBG，F2，F5，F7，F12，MMP9，HPA5，MTHFR，SDF-1，FAS，FASL，TERT，ACE和TLR4基因内的某些多态性也可能在MPN表现中起作用。这篇综述旨在就MPN患者血栓并发症的遗传学观点提供有见地的概述。