三阴性骨髓增殖性肿瘤相关基因突变和临床特点的研究进展

Research advances of genetic mutations and clinical characteristics associated with triple-negative myeloproliferative neoplasms

三阴性骨髓增殖性肿瘤是指JAK2 V617F、MPL及CALR突变为阴性的骨髓增殖性肿瘤。应用全外显子组和二代测序技术发现三阴性骨髓增殖性肿瘤患者存在非典型驱动突变和非驱动基因突变,初步解释了其发病机制。三阴性原发性血小板增多症的患者血栓风险少,多在低中危组,而三阴性原发性骨髓纤维化患者体质性症状重,易向白血病转化,预后不良,目前缺乏有效的治疗药物。本文就近年来三阴性骨髓增殖性肿瘤的非典型驱动突变、非驱动基因突变、发病机制及临床特点进行综述。

Presently the myeloproliferative neoplasms(MPNs),which are negative for JAK2 V617 F,CALR,and MPL mutations are called triple-negative MPNs.Some triple-negative MPNs patients were found to have atypical driving mutations and other non-driving gene mutations by using Whole Exome Sequencing and next generation sequencing technology,and the pathogenesis was preliminarily explained.Triple-negative essential thrombocythemia patients have less risk of thrombosis,and most of them are in the low or medium risk group,while the triple-negative primary myelofibrosis patients have severe constitutional symptoms,high propensity for leukemia transformation,and poor prognosis,and currently lack of effective therapeutic drugs.With the development of gene sequencing technology,more and more atypical mutations have been reported in triple-negative MPNs patients.In this paper,the atypical driving mutations,non-driving gene mutations,pathogenesis,clinical characteristics of triple-negative MPNs in recent years are reviewed.