Progress on PTPN11 mutation in the pathogenesis of juvenile myelomonocytic leukemia

VernacularTitle: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
Author: Yunlong CHEN ¹ ; Wenyu YANG
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1. 中国医学科学院血液病医院（中国医学科学院血液学研究所）实验血液学国家重点实验室　国家血液系统疾病临床医学研究中心　细胞生态海河实验室，天津　300020天津医学健康研究院　301600
Keywords: PTPN11 mutation; Juvenile myelomonocytic leukemia; Pathogenesis; RAS/MAPK signal pathway
From: International Journal of Pediatrics 2024;51(9):600-604
CountryChina
Language:Chinese
Abstract: 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.