Untaaveesup Suvijak, Trithiphen Sasinipa, Kulchutisin Kamolchanok, Rungjirajittranon Tarinee, Leelakanok Nattawut, Panyoy Sujitra, Kaokunakorn Thanapon, Owattanapanich Weerapat
Paholpolpayuhasena Hospital, Department of Medical Organization, Kanchanaburi, Thailand.
Division of Hematology, Department of Medicine, National Cancer Institute Thailand, Bangkok, Thailand.
Front Oncol. 2024 Mar 1;14:1325431. doi: 10.3389/fonc.2024.1325431. eCollection 2024.
Variations in mutation rates among acute myeloid leukemia (AML) patients with myeloid sarcoma (MS) underscore the need for a thorough examination. This meta-analysis was conducted to fill the information gap concerning mutation frequencies in AML patients presenting with MS.
This study included retrospective and prospective cohorts. It examined genetic alterations in AML patients with and without MS across all age groups. The search strategy employed terms such as "acute myeloid leukemia," "extramedullary," "granulocytic sarcoma," "myeloid sarcoma," and "leukemic cutis" in the EMBASE, MEDLINE, and Scopus databases. Excluded from the study were reviews, case reports, and case series with fewer than 10 cases. Statistical analyses were performed with Review Manager 5.4 software.
The primary analysis incorporated data from 37 cohorts involving 5646 diagnosed AML patients and revealed a 17.42% incidence of MS. The most prevalent mutation among AML patients with MS was -ITD, with a pooled prevalence of 17.50% (95% CI 12.60% to 22.50%; I 82.48%). The dominant fusion gene was , displaying a pooled prevalence of 28.10% (95% CI 15.10% to 41.20%; I 96.39%). In comparison, no significant intergroup differences were observed for , -ITD, , and mutations. Interestingly, the mutation exhibited protective effects for MS patients, with an odds ratio of 0.51 (95% CI 0.32 to 0.81; I 0%). Conversely, the mutation was associated with an increased risk of MS development, with an odds ratio of 5.07 (95% CI 1.87 to 13.73; I 0%).
This meta-analysis sheds light on the prevalence of genetic mutations in AML patients with MS, providing insights into the unique characteristics of the mutations and their frequencies. These discoveries are crucial in informing therapeutic and prognostic decisions for individuals with myeloid sarcoma.
伴有髓系肉瘤（MS）的急性髓系白血病（AML）患者的突变率存在差异，这突出了进行全面检查的必要性。本荟萃分析旨在填补有关伴有MS的AML患者突变频率的信息空白。
本研究纳入了回顾性和前瞻性队列。研究了所有年龄组中伴有和不伴有MS的AML患者的基因改变。检索策略在EMBASE、MEDLINE和Scopus数据库中使用了“急性髓系白血病”、“髓外”、“粒细胞肉瘤”、“髓系肉瘤”和“白血病性皮肤”等术语。本研究排除了综述、病例报告以及病例数少于10例的病例系列。使用Review Manager 5.4软件进行统计分析。
初步分析纳入了来自37个队列的5646例确诊AML患者的数据，结果显示MS的发生率为17.42%。伴有MS的AML患者中最常见的突变是FLT3-ITD，合并患病率为17.50%（95%置信区间12.60%至22.50%；I² 82.48%）。主要的融合基因是RUNX1-RUNX1T1，合并患病率为28.10%（95%置信区间15.10%至41.20%；I² 96.39%）。相比之下，在NPM1、FLT3-ITD、CEBPA和TP53突变方面未观察到显著的组间差异。有趣的是，CEBPA突变对MS患者具有保护作用，比值比为0.51（95%置信区间0.32至0.81；I² 0%）。相反，NRAS突变与MS发生风险增加相关，比值比为5.07（95%置信区间1.87至13.73；I² 0%）。
本荟萃分析揭示了伴有MS的AML患者基因突变的患病率，深入了解了突变的独特特征及其频率。这些发现对于为髓系肉瘤患者提供治疗和预后决策至关重要。
