正常核型急性髓系白血病（NK-AML）的风险分层仍然不尽如人意，这反映在白血病复发的高发率上。本研究旨在评估基因突变和临床特征在预测NK-AML患者复发中的作用。构建了一个NK-AML的预后系统。使用下一代测序技术探索了一套基因突变（GMS）面板。采用一个预测模型，即基因突变特征（GMS）、可测残留病和临床因素的基因突变特征（GMSN）的新精确度模型来预测来自四个中心的347名NK-AML患者的复发风险。GMS高组患者的5年复发发生率高于GMS低组（P < 0.001）。GMSN高组患者的5年复发发生率也高于GMSN中间组和低组（P < 0.001）。研究和验证队列证实，GMSN高组患者的5年无病生存率和总生存率较GMSN中间组和低组较低（P < 0.001）。本研究阐明了GMSN作为预测NK-AML复发的潜力。版权所有 © 2023. 由Elsevier Inc.发表。

Risk stratification for normal karyotype acute myeloid leukemia (NK-AML) remains unsatisfactory, which is reflected by the high incidence of leukemia relapse. This study aimed to evaluate the role of gene mutations and clinical characterization in predicting the relapse of patients with NK-AML.A prognostic system for NK-AML was constructed. A panel of gene mutations was explored using next-generation sequencing. A nomogram algorithm was used to build a genomic mutation signature (GMS) nomogram (GMSN) model that combines GMS, measurable residual disease, and clinical factors to predict relapse in 347 patients with NK-AML from four centers.Patients in the GMS-high group had a higher 5-year incidence of relapse than those in the GMS-low group (P < 0.001). The 5-year incidence of relapse was also higher in patients in the GMSN-high group than in those in the GMSN-intermediate and -low groups (P < 0.001). The 5-year disease-free survival and overall survival rates were lower in patients in the GMSN-high group than in those in the GMSN-intermediate and -low groups (P < 0.001) as confirmed by training and validation cohorts.This study illustrates the potential of GMSN as a predictor of NK-AML relapse.Copyright © 2023. Published by Elsevier Inc.