PTPN11基因突变在幼年型粒单核细胞白血病发病机制中的研究进展

Progress on PTPN11 mutation in the pathogenesis of juvenile myelomonocytic leukemia

幼年型粒单核细胞白血病(juvenile myelomonocytic leukemia,JMML)是一种婴幼儿期的克隆性血液系统恶性肿瘤。绝大部分JMML患儿存在RAS/MAPK信号通路基因突变,其中PTPN11(编码Shp2蛋白)突变是最常见的基因突变,占所有突变的35%。近年来,关于PTPN11突变在JMML的发病机制中的作用取得了新的研究进展,主要涉及新的机制,包括其他通路、炎症反应、造血干细胞过度活化以及非编码RNA参与PTPN11突变JMML的发生。该文就PTPN11突变在JMML发病机制中的研究进展作一综述。

Juvenile myelomonocytic leukemia(JMML)is a clonal hematologic malignancy in childhood.The majority of JMML patients have gene mutations in the RAS/MAPK signaling pathway,with PTPN11(encoding Shp2 protein)being the most common gene mutation,accounting for 35%.In recent years,new research progress has been made on the pathogenesis of PTPN11 mutations in JMML,mainly involving new mechanisms such as other pathways,inflammatory response,hematopoietic stem cell overactivation,and the involvement of noncoding RNA in the occurrence of PTPN11 mutations in JMML.This article reviews the research progress of PTPN11 mutation in the pathogenesis of JMML.