CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Lazarettgasse 14, BT25.3, Vienna 1090, Austria.
Hematol Oncol Clin North Am. 2012 Oct;26(5):1037-51. doi: 10.1016/j.hoc.2012.07.005. Epub 2012 Aug 21.
It is thought that myeloproliferative neoplasms (MPNs) are driven by somatic mutations, although hereditary factors also play a prominent role in the pathogenesis of the disease. Hereditary thrombocytosis and erythrocytosis are not malignant disorders but are clinically similar to MPNs. Several mutations have been found that explain a proportion of hereditary thrombocytosis and hereditary erythrocytosis. Germline variants can influence the risk of leukemic transformation in MPNs and the course of the disease through interaction with acquired chromosomal aberrations. Overall, it has been shown that germline factors play an important part in MPN pathogenesis.
据认为，骨髓增殖性肿瘤（MPN）是由体细胞突变驱动的，尽管遗传因素也在疾病发病机制中起着突出作用。遗传性血小板增多症和红细胞增多症不是恶性疾病，但在临床上与 MPN 相似。已经发现了几种突变，可以解释一部分遗传性血小板增多症和遗传性红细胞增多症。种系变异可以通过与获得性染色体异常相互作用影响 MPN 白血病转化的风险和疾病进程。总的来说，已经表明种系因素在 MPN 发病机制中起着重要作用。
