体细胞基因突变与骨髓增生异常综合征患者向急性髓系白血病转化风险的关联：系统评价和荟萃分析。
Association of Somatic Gene Mutations with Risk of Transformation into Acute Myeloid Leukemia in Patients with Myelodysplastic Syndrome: A Systematic Review and Meta-Analysis.
机构信息
Division of Hematology and Medical Oncology, Department of Internal Medicine, Dharmais National Cancer Hospital, Faculty of Medicine, Universitas Indonesia, Jakarta, Indonesia.
Department of Clinical Pathology, Dharmais National Cancer Hospital, Faculty of Medicine, Universitas Indonesia, Jakarta, Indonesia.
出版信息
Asian Pac J Cancer Prev. 2022 Apr 1;23(4):1107-1116. doi: 10.31557/APJCP.2022.23.4.1107.
OBJECTIVES
we aim to conduct a systematic review and meta-analysis in population of adult MDS patients to elucidate the role of these genes in AML transformation risk.
MATERIALS AND METHODS
The protocol for this systematic review and meta-analysis was registered in the international prospective register of systematic reviews (PROSPERO) with ID number of CRD42020218581. Systematic literature search was conducted by all authors up to October 2021 on: (1) PubMed, (2) EBSCOhost, (3) Scopus, (4) JSTOR, and (5) grey literatures. Hand-searching for relevant articles was also conducted. The following keywords with their synonyms and combinations using Boolean operators were applied to all database: "myelodysplastic syndrome", SRSF2", "SF3B1", "U2AF1", "ASXL1", "DNMT3A", "TET2", "IDH1", "IDH2", "RUNX1", "acute myeloid leukemia progression", and "leukemia free survival". Outcome was measured using hazard ratio (HR).
RESULTS
We identified 14 articles to be used for this systematic review and meta-analysis. There was no statistically significant difference in AML transformation risk between U2AF1 mutant and U2AF1 wildtype MDS patients (HR: 1.41; 95% CI: 0.95-2.07, p=0.08, I2=0%). Pooled HR showed that patients with SRSF2 mutation had higher risk of AML transformation (HR 2.62; 95% CI: 1.54-4.45; p= .0004; I2= 55%). The pooled HR for SF3B1 was 0.48 (95% CI: 0.22-1.06, p=0.07, I2=55%). Mutations of TET2, ASXL1, and EZH2 were not associated with AML transformation. Meanwhile, DNMT3A mutations were associated with AML transformation with pooled HR of 2.73 (95% CI: 1.43-5.21; p= 0.08; I2: 67%). The pooled HR for IDH genes was smaller (HR: 2.92; 95%CI: 1.21-7.06; p=0.02; I2:65%). Patients with RUNX1 mutation were associated with AML transformation (HR: 1.85; 95%CI: 1.11-3.09; p=0.02; I2:38%).
CONCLUSION
Based from our analyses, MDS patients with mutations of SRSF2, DNMT3A, IDH, and RUNX1 have higher hazard ratio for AML transformation.
目的
我们旨在对成年 MDS 患者群体进行系统回顾和荟萃分析，以阐明这些基因在 AML 转化风险中的作用。
材料和方法
本系统回顾和荟萃分析的方案已在国际前瞻性系统评价注册中心（PROSPERO）注册，注册号为 CRD42020218581。所有作者在 2021 年 10 月前对以下数据库进行了系统文献检索：（1）PubMed，（2）EBSCOhost，（3）Scopus，（4）JSTOR，（5）灰色文献。还进行了相关文章的手工检索。将以下关键词及其同义词和布尔运算符组合应用于所有数据库：“骨髓增生异常综合征”、“SRSF2”、“SF3B1”、“U2AF1”、“ASXL1”、“DNMT3A”、“TET2”、“IDH1”、“IDH2”、“RUNX1”、“急性髓系白血病进展”和“白血病无进展生存”。使用风险比（HR）来衡量结果。
结果
我们确定了 14 篇文章用于本系统回顾和荟萃分析。U2AF1 突变型和 U2AF1 野生型 MDS 患者的 AML 转化风险无统计学差异（HR：1.41；95%CI：0.95-2.07，p=0.08，I2=0%）。合并 HR 显示，SRSF2 突变患者 AML 转化风险更高（HR 2.62；95%CI：1.54-4.45；p=0.0004；I2=55%）。SF3B1 的合并 HR 为 0.48（95%CI：0.22-1.06，p=0.07，I2=55%）。TET2、ASXL1 和 EZH2 的突变与 AML 转化无关。同时，DNMT3A 突变与 AML 转化相关，合并 HR 为 2.73（95%CI：1.43-5.21；p=0.08；I2：67%）。IDH 基因的合并 HR 较小（HR：2.92；95%CI：1.21-7.06；p=0.02；I2：65%）。RUNX1 突变患者与 AML 转化相关（HR：1.85；95%CI：1.11-3.09；p=0.02；I2：38%）。
结论
根据我们的分析，SRSF2、DNMT3A、IDH 和 RUNX1 突变的 MDS 患者 AML 转化的风险比更高。
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