ASXL1 和 TET2 基因突变相互作用对慢性粒单核细胞白血病患者预后的价值：一项荟萃分析。

The prognostic value of the interaction between ASXL1 and TET2 gene mutations in patients with chronic myelomonocytic leukemia: a meta-analysis.

机构信息

NHC Key Laboratory of Antibiotic Bioengineering, Laboratory of Oncology, Institute of Medicinal Biotechnology, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, People's Republic of China.

School of Pharmacy, Department of Pharmacology, Liaoning Key Laboratory of Molecular Targeted Anti-Tumor Drug Development and Evaluation, China Medical University, Shenyang, People's Republic of China.

出版信息

Hematology. 2022 Dec;27(1):367-378. doi: 10.1080/16078454.2021.1958486.

DOI:10.1080/16078454.2021.1958486

PMID:35306971

Abstract

PURPOSE

The prognostic role of TET2 and/or ASXL1 mutations which are common gene mutations in chronic myelomonocytic leukemia (CMML) remains controversial. Therefore, we conducted this meta-analysis to evaluate the prognostic efficacy of ASXL1 and TET2 mutations in CMML population.

METHODS

PubMed, Cochrane and Embase for relevant research were employed to identify 16 studies. Overall survival rate (OS) with hazard ratios (HRs) was used for analysis, and each individual HR was applied to calculate the combined HR.

RESULTS

The total HR of OS was 0.74, 95% CI = 0.61 - 0.91, = 0.005, compared with CMML patients without TET2 mutations (TET2), and the total HR of OS was 1.56, 95% CI = 1.34 - 1.80, = 0.000, compared with CMML patients without ASXL1 mutation (ASXL1), indicating that TET2 and ASXL1 were favorable for prognosis of CMML. According to whether the gene is mutated or not, the acute transformation rate of disease and mortality rate were further considered for assessment. Compared with the CMML patients with TET2 and ASXL1, the HR of patients with in both TET2 and ASXL1 was 1.51 (95% CI = 1.14 - 1.99; = 0.004), the HR of patients with neither TET2 nor ASXL1 was 1.49 (95%CI = 1.12 - 1.98; = 0.007), and the HR of TET2 and ASXL1 patients was 1.88 (95%CI = 1.21 - 2.94; = 0.005).

CONCLUSION

Presence of TET2 and ASXL1 genotype was the most beneficial for the survival of CMML patients.

摘要

目的

TET2 和/或 ASXL1 突变是慢性粒单核细胞白血病（CMML）中常见的基因突变，其预后作用仍存在争议。因此，我们进行了这项荟萃分析，以评估 ASXL1 和 TET2 突变在 CMML 人群中的预后疗效。

方法

采用 PubMed、Cochrane 和 Embase 检索相关研究，共纳入 16 项研究。采用风险比（HR）进行总生存率（OS）分析，并对每个个体 HR 进行计算，以得出合并 HR。

结果

与 CMML 患者无 TET2 突变（TET2）相比，OS 的总 HR 为 0.74，95%CI=0.61-0.91， =0.005，与 CMML 患者无 ASXL1 突变（ASXL1）相比，OS 的总 HR 为 1.56，95%CI=1.34-1.80， =0.000，表明 TET2 和 ASXL1 有利于 CMML 的预后。根据基因是否突变，进一步考虑疾病的急性转化率和死亡率进行评估。与同时存在 TET2 和 ASXL1 的 CMML 患者相比，同时存在 TET2 和 ASXL1 的患者 HR 为 1.51（95%CI=1.14-1.99； =0.004），既不存在 TET2 也不存在 ASXL1 的患者 HR 为 1.49（95%CI=1.12-1.98； =0.007），而 TET2 和 ASXL1 患者的 HR 为 1.88（95%CI=1.21-2.94； =0.005）。