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首页> 外文期刊>American Journal of Pathology >High Frequency of t(14;18)-Translocation Breakpoints Outside of Major Breakpoint and Minor Cluster Regions in Follicular Lymphomas : Improved Polymerase Chain Reaction Protocols for Their Detection
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High Frequency of t(14;18)-Translocation Breakpoints Outside of Major Breakpoint and Minor Cluster Regions in Follicular Lymphomas : Improved Polymerase Chain Reaction Protocols for Their Detection

机译：滤泡性淋巴瘤中主要断裂点和次要簇区域之外的t（14; 18）易位断裂的高频率：改进的检测其的聚合酶链反应方案

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摘要

The detection of t(14;18) translocations is widely used for the diagnosis and monitoring of follicular lymphomas displaying a high prevalence for this aberration. Cytogenetics, Southern blotting, and polymerase chain reaction (PCR) are commonly used techniques. It is generally believed that the vast majority of the breakpoints occurs on chromosome 18 in the major breakpoint region (mbr) and the minor cluster region (mcr). Yet, by improving long-distance PCR protocols we identified half of the breakpoints outside of these clusters. Our study included biopsies from 59 patients with follicular lymphoma. Seventy-one percent carried translocations detectable with our long-distance PCR protocol. The novel primer sets were derived from the hitherto uncharacterized 25-kb-long stretch between mbr and mcr that we have sequenced for this purpose. Sequence analysis of the novel breakpoints reveals a wide distribution between mbr and mcr displaying some clustering 16 kb downstream from the BCL2 gene. By including a primer for this intermediate cluster region in standard PCRs we could also improve the detection of t(14;18) translocations in formalin-fixed and paraffin-embedded biopsies. Our new PCRs are highly sensitive, easy to perform, and thus well suited for routine analysis of t(14;18) translocations for the primary diagnosis of follicular lymphoma and surveillance of minimal residual disease.
机译：t（14; 18）易位的检测被广泛用于 滤泡性淋巴瘤的诊断和监测，该异常显示出 的高患病率。细胞遗传学，Southern印迹， 和聚合酶链反应（PCR）是常用的技术。 通常认为，绝大多数 断点都发生在第18号染色体上的主要断点区域（mbr） 和次要簇区域（mcr）中。但是，通过改进长距离 PCR协议，我们确定了这些集群 之外的一半断点。我们的研究包括59例 滤泡性淋巴瘤患者的活检。通过我们的长距离PCR方案，有71％的人进行了可检测的 易位。新颖的引物集 源自迄今为止为此目的而测序的 mbr和mcr之间25 kb长的未表征序列。新断点的序列分析 显示了mbr 和mcr之间的广泛分布，显示了BCL2 基因下游16 kb的一些聚类。通过在标准PCR中加入该中间簇区域 的引物，我们还可以改善福尔马林固定和石蜡包埋的活检组织中t（14; 18） 易位的检测。 我们的新PCR具有很高的灵敏度，易于执行，因此 非常适合常规分析t（14; 18）易位的 滤泡性淋巴瘤的诊断和微小残留病的监测 。

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  • 来源
    《American Journal of Pathology》 |2002年第3期|823-832|共10页
  • 作者

    Andrea Albinger-Hegyi; Bernhard Hochreutener; Marie-Therese Abdou; Ivan Hegyi; María Teresa Dours-Zimmermann; Michael O. Kurrer; Philipp U. Heitz; Dieter R. Zimmermann;

  • 作者单位

    From the Laboratory of Molecular Biology, Institute of ClinicalPathology, Department of Pathology, University Hospital,Zürich, Switzerland;

    From the Laboratory of Molecular Biology, Institute of ClinicalPathology, Department of Pathology, University Hospital,Zürich, Switzerland;

    From the Laboratory of Molecular Biology, Institute of ClinicalPathology, Department of Pathology, University Hospital,Zürich, Switzerland;

    From the Laboratory of Molecular Biology, Institute of ClinicalPathology, Department of Pathology, University Hospital,Zürich, Switzerland;

    From the Laboratory of Molecular Biology, Institute of ClinicalPathology, Department of Pathology, University Hospital,Zürich, Switzerland;

    From the Laboratory of Molecular Biology, Institute of ClinicalPathology, Department of Pathology, University Hospital,Zürich, Switzerland;

    From the Laboratory of Molecular Biology, Institute of ClinicalPathology, Department of Pathology, University Hospital,Zürich, Switzerland;

    From the Laboratory of Molecular Biology, Institute of ClinicalPathology, Department of Pathology, University Hospital,Zürich, Switzerland;

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