Chia Yuh Cai, Islam Md Asiful, Hider Phil, Woon Peng Yeong, Johan Muhammad Farid, Hassan Rosline, Ramli Marini
Department of Haematology, School of Medical Sciences, Universiti Sains Malaysia, Kubang Kerian 16150, Kelantan, Malaysia.
Department of Population Health, University of Otago, Christchurch 8140, New Zealand.
Cancers (Basel). 2021 Jun 20;13(12):3078. doi: 10.3390/cancers13123078.
Multiple recurrent somatic mutations have recently been identified in association with myeloproliferative neoplasms (MPN). This meta-analysis aims to assess the pooled prevalence of gene mutations among patients with MPN. Six databases (PubMed, Scopus, ScienceDirect, Google Scholar, Web of Science and Embase) were searched for relevant studies from inception till September 2020, without language restrictions. The eligibility criteria included --negative MPN adults with gene mutations. A random-effects model was used to estimate the pooled prevalence with 95% confidence intervals (CIs). Subgroup analyses explored results among different continents and countries, WHO diagnostic criteria, screening methods and types of MF. Quality assessment was undertaken using the Joanna Briggs Institute critical appraisal tool. The study was registered with PROSPERO (CRD42020212223). Thirty-five studies were included ( = 5121, 47.1% female). Overall, the pooled prevalence of gene mutations in MPN patients was 15.5% (95% CI: 12.1-19.0%, = 94%). Regional differences explained a substantial amount of heterogeneity. The prevalence of gene mutations among the three subtypes PV, ET and MF were 16.8%, 9.8% and 15.7%, respectively. The quality of the included studies was determined to be moderate-high among 83% of the included studies. Among patients with --negative MPN, the overall prevalence of gene mutations was 15.5%.
最近已鉴定出多种复发性体细胞突变与骨髓增殖性肿瘤（MPN）相关。本荟萃分析旨在评估MPN患者中基因突变的合并患病率。检索了六个数据库（PubMed、Scopus、ScienceDirect、谷歌学术、科学网和Embase），以查找从数据库建立到2020年9月的相关研究，无语言限制。纳入标准包括——患有基因突变的MPN成年患者。采用随机效应模型估计合并患病率及95%置信区间（CI）。亚组分析探讨了不同大洲和国家、世界卫生组织诊断标准、筛查方法和骨髓纤维化（MF）类型的结果。使用乔安娜·布里格斯研究所的批判性评价工具进行质量评估。该研究已在国际前瞻性系统评价注册库（PROSPERO）注册（注册号：CRD42020212223）。纳入35项研究（n = 5121，47.1%为女性）。总体而言，MPN患者中基因突变的合并患病率为15.5%（95%CI：12.1 - 19.0%，I² = 94%）。区域差异解释了相当大比例的异质性。PV、ET和MF这三种亚型中基因突变的患病率分别为16.8%、9.8%和15.7%。在83%的纳入研究中，所纳入研究的质量被判定为中高。在患有基因突变的MPN患者中，基因突变的总体患病率为15.5%。
