The alpha-thalassemia/mental retardation syndrome, X linked, also named ATR-X syndrome is a X-linked mental retardation syndrome. Mutations have been found in the ATRX gene in about one half of the patients. We report...The alpha-thalassemia/mental retardation syndrome, X linked, also named ATR-X syndrome is a X-linked mental retardation syndrome. Mutations have been found in the ATRX gene in about one half of the patients. We report a typical clinical case. The clinical evidence leads us to continue the analysis of the gene despite a negative first screening. Indeed a new mutation was found, just behind the helicase domain, bringing up the interest of an effective collaboration between physicians and biologists.展开更多
目的分析α-地中海贫血/精神发育迟滞综合征X染色体相关基因(ATRX)表达丢失对脑胶质瘤患者预后的影响,同时探究其与胶质瘤分级、胶质瘤分子标志物异柠檬酸脱氢酶(IDH)突变之间的相关性。方法利用计算机检索PubMed、Medline、Web of Scie...目的分析α-地中海贫血/精神发育迟滞综合征X染色体相关基因(ATRX)表达丢失对脑胶质瘤患者预后的影响,同时探究其与胶质瘤分级、胶质瘤分子标志物异柠檬酸脱氢酶(IDH)突变之间的相关性。方法利用计算机检索PubMed、Medline、Web of Science、Ovid、万方医学网、中国知网等数据库,收集自建库至2020年6月国内外发表的关于ARTX表达状态与胶质瘤患者预后及相关指标关系的文献,应用Revman 5.3计算机软件进行Meta分析。结果共纳入文献18篇,4593例患者。其中8篇文献报道了ATRX表达情况与胶质瘤患者总生存期(OS)的关系,结果显示ATRX表达丢失,胶质瘤患者预后更好(HR=0.55,95%CI:0.47~0.64,P<0.001);纳入的5篇文献报道了ATRX的表达情况与胶质瘤患者无病生存期(PFS)的关系,结果显示ATRX丢失,胶质瘤患者PFS显著延长(HR=0.57,95%CI:0.48~0.68,P<0.001);纳入的11篇文献报道了ATRX表达情况与胶质瘤级别的关系,结果显示ATRX表达情况与胶质瘤发生级别显著相关,ATRX丢失更易发生于低级别胶质瘤(OR=2.11,95%CI:1.46~3.05,P<0.001);纳入的7篇文献报道了ATRX表达情况与IDH突变的关系,结果显示ATRX丢失利于IDH突变(OR=13.97,95%CI:10.23~19.08,P<0.001)。结论ATRX丢失提示胶质瘤患者预后更好,其与肿瘤分级、IDH突变具有密切的相关性。展开更多
文摘The alpha-thalassemia/mental retardation syndrome, X linked, also named ATR-X syndrome is a X-linked mental retardation syndrome. Mutations have been found in the ATRX gene in about one half of the patients. We report a typical clinical case. The clinical evidence leads us to continue the analysis of the gene despite a negative first screening. Indeed a new mutation was found, just behind the helicase domain, bringing up the interest of an effective collaboration between physicians and biologists.
文摘目的分析α-地中海贫血/精神发育迟滞综合征X染色体相关基因(ATRX)表达丢失对脑胶质瘤患者预后的影响,同时探究其与胶质瘤分级、胶质瘤分子标志物异柠檬酸脱氢酶(IDH)突变之间的相关性。方法利用计算机检索PubMed、Medline、Web of Science、Ovid、万方医学网、中国知网等数据库,收集自建库至2020年6月国内外发表的关于ARTX表达状态与胶质瘤患者预后及相关指标关系的文献,应用Revman 5.3计算机软件进行Meta分析。结果共纳入文献18篇,4593例患者。其中8篇文献报道了ATRX表达情况与胶质瘤患者总生存期(OS)的关系,结果显示ATRX表达丢失,胶质瘤患者预后更好(HR=0.55,95%CI:0.47~0.64,P<0.001);纳入的5篇文献报道了ATRX的表达情况与胶质瘤患者无病生存期(PFS)的关系,结果显示ATRX丢失,胶质瘤患者PFS显著延长(HR=0.57,95%CI:0.48~0.68,P<0.001);纳入的11篇文献报道了ATRX表达情况与胶质瘤级别的关系,结果显示ATRX表达情况与胶质瘤发生级别显著相关,ATRX丢失更易发生于低级别胶质瘤(OR=2.11,95%CI:1.46~3.05,P<0.001);纳入的7篇文献报道了ATRX表达情况与IDH突变的关系,结果显示ATRX丢失利于IDH突变(OR=13.97,95%CI:10.23~19.08,P<0.001)。结论ATRX丢失提示胶质瘤患者预后更好,其与肿瘤分级、IDH突变具有密切的相关性。
