Department of Hematology, The Second Affiliated Hospital of Chongqing Medical University, China.
Adv Clin Exp Med. 2023 Jul;32(7):741-751. doi: 10.17219/acem/157478.
Acute myeloid leukemia (AML) is a heterogeneous disease characterized by diverse genetic abnormalities. The NPM1 is the most commonly mutated gene in newly diagnosed patients. Optimizing risk stratification in this population could facilitate more rational clinical decision-making.
To identify biomarkers that optimize risk stratification in AML patients with NPM1 mutations.
Acute myeloid leukemia patients from multiple centers were included in this study. Univariate, multivariate and Kaplan-Meier survival analyses were used to assess risk factors and clinical outcomes. The gene set enrichment analysis (GSEA) was conducted to identify the related enrichment of biological function.
TG-interacting factor 1 (TGIF1) is a good prognostic indicator of disease progression in AML patients. It is closely related to NPM1 mutation, in which age and TGIF1 expression are independent prognostic factors. Multicenter data sources have shown that high expression of TGIF1 is beneficial for AML, regardless of whether patients received bone marrow transplantation. In the NPM1-mutated AML group, age, FLT3-ITD and TGIF1 were independent prognostic factors. Moreover, the NPM1-mutated subgroup could be well dichotomized into 2 groups with distinct prognoses through TGIF1 combined with European LeukemiaNet (ELN) 2017 risk stratification.
The TGIF1 has an important value in the prognosis of AML. The NPM1-mutated patients were further subdivided into risk stratification groups based on TGIF1 expression, which could optimize the ELN 2017 to achieve individualized treatment.
急性髓系白血病（AML）是一种具有多种遗传异常的异质性疾病。NPM1 是新诊断患者中最常突变的基因。在该人群中优化风险分层可以促进更合理的临床决策。
确定 NPM1 突变的 AML 患者中优化风险分层的生物标志物。
本研究纳入了来自多个中心的急性髓系白血病患者。采用单因素、多因素和 Kaplan-Meier 生存分析评估风险因素和临床结果。进行基因集富集分析（GSEA）以确定相关生物学功能的富集。
TG 相互作用因子 1（TGIF1）是 AML 患者疾病进展的良好预后指标。它与 NPM1 突变密切相关，其中年龄和 TGIF1 表达是独立的预后因素。多中心数据源表明，TGIF1 高表达有利于 AML，无论患者是否接受骨髓移植。在 NPM1 突变的 AML 组中，年龄、FLT3-ITD 和 TGIF1 是独立的预后因素。此外，通过 TGIF1 联合欧洲白血病网（ELN）2017 风险分层，可以将 NPM1 突变亚组很好地分为具有明显不同预后的 2 组。
TGIF1 在 AML 的预后中有重要价值。根据 TGIF1 表达，进一步将 NPM1 突变患者细分到风险分层组中，可以优化 ELN 2017 以实现个体化治疗。
