通讯作者: 黄娟, huangjuanxy@med.uestc.edu.cn

DOI：10.12201/bmr.202604.00020

Correlation between IDH1/2 Mutations and MRD Negativity in Unfit Acute Myeloid Leukemia Patients Treated with Venetoclax and Azacitidine: A Single-Center Case Series and Literature Review

• 摘要：目的：探讨IDH1/2突变在接受维奈克拉（venetoclax, VEN）联合阿扎胞苷（azacitidine, AZA）治疗的不适合强化疗（unfit）急性髓系白血病（acute myeloid leukemia, AML）患者中对微小残留病（measurable residual disease, MRD）阴性的预测意义，并评估不同VEN疗程（14天 vs 28天）的影响。方法：回顾性分析四川省人民医院40例初治unfit AML患者，均接受VEN+AZA治疗（14天或28天方案）。比较IDH1/2突变组（n=13）与野生组（n=27）的临床特征、疗效及180天无进展生存（progression-free survival, PFS）。多因素Logistic回归分析MRD阴性相关因素，按治疗组分层分析并行文献回顾。结果：IDH1/2突变率32.5%。突变组复合完全缓解（composite complete remission，CRc）率84.6%，野生组CRc率77.8%（P=1.000）。单因素分析示突变组MRD阴性率61.5% vs 33.3%（OR=3.200，95%CI 0.810-12.650，P=0.171）；多因素校正后IDH1/2突变与MRD阴性仍呈正相关趋势（aOR=3.115，P=0.098）。按治疗组分层：28天组突变患者MRD阴性率85.7%，高于14天组42.9%。13例突变患者中8例（61.5%）获MRD阴性。文献回顾支持IDH1/2突变是VEN+AZA优势人群，与深度分子缓解相关。结论：IDH1/2突变与VEN+AZA治疗后MRD阴性呈正相关趋势（未达统计学显著性，P=0.098），28天疗程显示出可能有助于提高MRD转阴率。在统计学效能有限的探索性分析中，IDH突变患者表现出较高的MRD阴性率，提示该类患者或可将MRD阴性作为治疗目标。

  关键词： IDH1/2突变; 急性髓系白血病; 维奈克拉; 阿扎胞苷; 微小残留病; 不适合强化疗

   

  Abstract: Objective:To investigate the predictive value of IDH1/2 mutations for measurable residual disease (MRD) negativity in unfit patients with acute myeloid leukemia (AML) receiving venetoclax (VEN) plus azacitidine (AZA), and to evaluate the impact of different VEN treatment durations (14-day vs. 28-day regimen).Methods:A retrospective analysis was conducted on 40 treatment-na?ve unfit AML patients who received VEN+AZA (14-day or 28-day regimen) at Sichuan Provincial Peoples Hospital.Clinical characteristics, treatment responses, and 180-day progression-free survival (PFS) were compared between the IDH1/2-mutated (n=13) and wild-type (n=27) groups. Multivariate logistic regression was performed to identify factors associated with MRD negativity. Stratified analysis by treatment regimen and a systematic literature review were conducted.Results:The incidence of IDH1/2 mutations was 32.5%. The CRc rate was 84.6% in the IDH1/2-mutated group and 77.8% in the wild-type group (P=1.000). Univariate analysis showed a higher MRD negativity rate in the mutated group (61.5% vs. 33.3%;OR=3.200，95%CI 0.810-12.650，P=0.171). After multivariate adjustment, IDH1/2 mutation maintained a positive trend toward MRD negativity (aOR=3.115, P=0.098). Stratified analysis revealed that among patients in the 28-day regimen group, those with IDH1/2 mutations had an MRD negativity rate of 85.7%, compared to 42.9% in the 14-day group. Among the 13 patients with IDH1/2 mutations, 8 (61.5%) achieved MRD negativity. Literature review supports IDH1/2 mutations as identifying a favorable population for VEN+AZA therapy, associated with deep molecular responses.Conclusion:IDH1/2 mutations showed a positive trend toward MRD negativity following VEN+AZA therapy, although statistical significance was not reached (P?= 0.098). The 28-day regimen may be associated with a higher rate of MRD negativity. In this exploratory analysis with limited statistical power, patients with IDH mutations demonstrated a higher MRD negativity rate, suggesting that achieving MRD negativity could be considered a therapeutic goal in this patient population.

  Key words: IDH1/2 mutation; Acute myeloid leukemia; Venetoclax; Azacitidine; Measurable residual disease; Unfit for intensive chemotherapy

  提交时间：2026-04-03

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• 序号	提交日期	编号	操作
  1	2026-03-13	10.12201/bmr.202604.00020V1	下载

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