伴TP53基因突变急性淋巴细胞白血病研究进展

Advances in acute lymphoblastic leukemia with TP53 gene mutations

急性淋巴细胞白血病(ALL)是儿童群体最常见的血液系统恶性肿瘤,几乎占所有确诊儿童癌症的1/3。ALL发病和不同种类的遗传变异密切相关。TP53是关键抑癌基因,在维持基因组稳定性和防止DNA损伤细胞增殖方面起核心作用。约50%的肿瘤疾病存在TP53突变,在初诊ALL中伴TP53突变者不到5%,但在复发ALL病例中TP53突变高达20%以上。其临床特征、发病机制、治疗策略等研究均处于起步阶段,进展尚不明晰。现就伴TP53基因突变的儿童ALL的研究进展作一综述。

Acute lymphoblastic leukemia(ALL)is the most common hematologic malignancy in children,accounting for almost one-third of all confirmed childhood cancers.The pathogenesis of ALL is closely related to different kinds of genetic variations.TP53 is a key tumor suppressor gene that plays a core role in maintaining genomic stability and preventing DNA damage to cell proliferation.Approximately 50%of tumor diseases have TP53 mutations.Less than 5%of initially diagnosed ALL have TP53 mutations,but in relapsed ALL,TP53 mutations are as high as 20%or more.The research on its clinical characteristics,pathogenesis,and treatment strategies is still in the initial stage,and the progress is not yet clear.This article reviews the advances in pediatric ALL with TP53 gene mutations.