PDF(Pubmed)
Abstract：
OBJECTIVE: Myelodysplastic syndromes (MDS) are myeloid neoplasms characterized by ineffective hematopoiesis due to stem cell abnormalities. Monosomy 7q aberrations are a common cytogenetic abnormality in MDS. Specifically, an unbalanced translocation der(1;7)(q10;p10) [der(1;7)] has been identified in MDS patients, which is a monosomy 7q aberration variant like -7/del(7q). However, knowledge of der(1;7)\'s features remains limited. Existing studies have compared the clinical and genetic characteristics of der(1;7) to those of -7/del(7q) but yielded inconsistent findings. Accordingly, we conducted meta-analyses comparing der(1;7) to -7/del(7q).
METHODS: Publications were searched from the following databases up to January 10, 2023: Pubmed, Web of Science, Embase, Cochrane, and ClinicalTrials.gov. Eligible studies were assessed for risks of bias. Relevant data were extracted from included studies and analyzed using random-effects models. Publication bias was evaluated and sensitivity analyses were performed.
RESULTS: The comparative meta-analyses included 405 MDS patients with der(1;7) from nine studies. The analysis revealed that der(1;7) was associated with a greater male preponderance (86.1% vs. 68.3%, Odds Ratios (ORs) 2.007, p < 0.01) than -7/del(7q), lower platelets counts compared to del(7q), higher hemoglobin levels than -7, lower absolute neutrophil counts, and higher percentage of patients with non-excess blasts (66.9% vs. 41.3%, ORs 2.374, p = 0.01) in comparison with -7/del(7q). The der(1;7) existed more as a sole karyotype aberration (55.6% vs. 37.0%, ORs 2.902, p = 0.02), co-occurred more often with +8 (22.7% vs. 4.2%, ORs 5.714, p = 0.04) whereas less -5/del(5q) (1.5% vs. 41.3%, ORs 0.040, p < 0.01) and complex karyotype (7.3% vs. 54.8%, OR 0.085, p < 0.01). The der(1;7) was associated with higher frequencies of RUNX1 (40.8% vs. 12.3%, ORs 4.764, p < 0.01), ETNK1 (28.1% vs. 2.5%, ORs 42.106, p < 0.01) and EZH2 (24.8% vs. 6.9%, ORs 3.767, p = 0.02) mutations, but less TP53 mutation (2.4% vs. 45.3%, ORs 0.043, p < 0.01). Moreover, der(1;7) patients had longer time to progression (Hazard Ratios (HRs) 0.331, p = 0.02), better overall survival (OS) than -7 patients (HRs 0.557, p < 0.01), but similar OS with del(7q) patients (HRs 0.837, p = 0.37).
CONCLUSIONS: The findings revealed distinct clinical, cytogenetic, and molecular characteristics distinguishing der(1;7) from -7/del(7q), indicating der(1;7) defines a unique subtype within MDS with monosomy 7q. These findings support classifying der(1;7) as a separate MDS entity in future.
METHODS: Publications were searched from the following databases up to January 10, 2023: Pubmed, Web of Science, Embase, Cochrane, and ClinicalTrials.gov. Eligible studies were assessed for risks of bias. Relevant data were extracted from included studies and analyzed using random-effects models. Publication bias was evaluated and sensitivity analyses were performed.
RESULTS: The comparative meta-analyses included 405 MDS patients with der(1;7) from nine studies. The analysis revealed that der(1;7) was associated with a greater male preponderance (86.1% vs. 68.3%, Odds Ratios (ORs) 2.007, p < 0.01) than -7/del(7q), lower platelets counts compared to del(7q), higher hemoglobin levels than -7, lower absolute neutrophil counts, and higher percentage of patients with non-excess blasts (66.9% vs. 41.3%, ORs 2.374, p = 0.01) in comparison with -7/del(7q). The der(1;7) existed more as a sole karyotype aberration (55.6% vs. 37.0%, ORs 2.902, p = 0.02), co-occurred more often with +8 (22.7% vs. 4.2%, ORs 5.714, p = 0.04) whereas less -5/del(5q) (1.5% vs. 41.3%, ORs 0.040, p < 0.01) and complex karyotype (7.3% vs. 54.8%, OR 0.085, p < 0.01). The der(1;7) was associated with higher frequencies of RUNX1 (40.8% vs. 12.3%, ORs 4.764, p < 0.01), ETNK1 (28.1% vs. 2.5%, ORs 42.106, p < 0.01) and EZH2 (24.8% vs. 6.9%, ORs 3.767, p = 0.02) mutations, but less TP53 mutation (2.4% vs. 45.3%, ORs 0.043, p < 0.01). Moreover, der(1;7) patients had longer time to progression (Hazard Ratios (HRs) 0.331, p = 0.02), better overall survival (OS) than -7 patients (HRs 0.557, p < 0.01), but similar OS with del(7q) patients (HRs 0.837, p = 0.37).
CONCLUSIONS: The findings revealed distinct clinical, cytogenetic, and molecular characteristics distinguishing der(1;7) from -7/del(7q), indicating der(1;7) defines a unique subtype within MDS with monosomy 7q. These findings support classifying der(1;7) as a separate MDS entity in future.
摘要：
目的：骨髓增生异常综合征（MDS）是以干细胞异常导致的无效造血为特征的髓系肿瘤。单体7q畸变是MDS中常见的细胞遗传学异常。具体来说,已在MDS患者中发现不平衡易位者（1;7）（q10;p10）[der（1;7）]，它是像-7/del(7q)这样的单体7q像差变体。然而,对der(1；7)功能的了解仍然有限。现有研究将der(1;7)的临床和遗传特征与-7/del(7q)的临床和遗传特征进行了比较，但结果不一致。因此，我们进行了荟萃分析，比较了der(1;7)与-7/del(7q)。
方法：截至2023年1月10日，从以下数据库中搜索出版物：WebofScience,Embase,科克伦,和ClinicalTrials.gov.评估合格研究的偏倚风险。从纳入的研究中提取相关数据，并使用随机效应模型进行分析。评估发表偏倚并进行敏感性分析。
结果：比较荟萃分析包括来自9项研究的405名患有der(1;7)的MDS患者。分析显示，der(1;7)与更大的男性优势相关(86.1%vs.68.3%,赔率比（ORs）2.007，p<0.01）比-7/del（7q），与del（7q）相比，血小板计数较低，血红蛋白水平高于-7，中性粒细胞绝对计数较低，非过量母细胞的患者比例更高(66.9%vs.41.3%,ORs2.374，p=0.01）与-7/del（7q）相比。der(1;7)作为唯一的核型畸变存在更多(55.6%vs.37.0%,ORs2.902，p=0.02)，与+8共同发生的频率更高(22.7%与4.2%，ORs5.714，p=0.04），而小于-5/del（5q）（1.5%与41.3%,ORs0.040，p<0.01）和复杂核型（7.3%vs.54.8%,OR0.085，p<0.01)。der(1;7)与RUNX1的较高频率相关(40.8%vs.12.3%,ORs4.764，p<0.01)，ETNK1（28.1%与2.5%,ORs42.106，p<0.01）和EZH2（24.8%vs.6.9%，ORs3.767，p=0.02）突变，但TP53突变较少（2.4%vs.45.3%,ORs0.043，p<0.01)。此外，der（1;7）患者的进展时间更长（危害比（HRs）0.331，p=0.02），总生存期（OS）优于-7例患者（HR0.557，p<0.01），但与del（7q）患者的OS相似（HRs0.837，p=0.37）。
结论：这些发现揭示了不同的临床，细胞遗传学，和分子特征区分der(1;7)和-7/del(7q)，指示der(1;7)定义了MDS中具有单体7q的唯一亚型。这些发现支持将der(1;7)分类为未来的独立MDS实体。
方法：截至2023年1月10日，从以下数据库中搜索出版物：WebofScience,Embase,科克伦,和ClinicalTrials.gov.评估合格研究的偏倚风险。从纳入的研究中提取相关数据，并使用随机效应模型进行分析。评估发表偏倚并进行敏感性分析。
结果：比较荟萃分析包括来自9项研究的405名患有der(1;7)的MDS患者。分析显示，der(1;7)与更大的男性优势相关(86.1%vs.68.3%,赔率比（ORs）2.007，p<0.01）比-7/del（7q），与del（7q）相比，血小板计数较低，血红蛋白水平高于-7，中性粒细胞绝对计数较低，非过量母细胞的患者比例更高(66.9%vs.41.3%,ORs2.374，p=0.01）与-7/del（7q）相比。der(1;7)作为唯一的核型畸变存在更多(55.6%vs.37.0%,ORs2.902，p=0.02)，与+8共同发生的频率更高(22.7%与4.2%，ORs5.714，p=0.04），而小于-5/del（5q）（1.5%与41.3%,ORs0.040，p<0.01）和复杂核型（7.3%vs.54.8%,OR0.085，p<0.01)。der(1;7)与RUNX1的较高频率相关(40.8%vs.12.3%,ORs4.764，p<0.01)，ETNK1（28.1%与2.5%,ORs42.106，p<0.01）和EZH2（24.8%vs.6.9%，ORs3.767，p=0.02）突变，但TP53突变较少（2.4%vs.45.3%,ORs0.043，p<0.01)。此外，der（1;7）患者的进展时间更长（危害比（HRs）0.331，p=0.02），总生存期（OS）优于-7例患者（HR0.557，p<0.01），但与del（7q）患者的OS相似（HRs0.837，p=0.37）。
结论：这些发现揭示了不同的临床，细胞遗传学，和分子特征区分der(1;7)和-7/del(7q)，指示der(1;7)定义了MDS中具有单体7q的唯一亚型。这些发现支持将der(1;7)分类为未来的独立MDS实体。
