Horsman D E, Gascoyne R D, Coupland R W, Coldman A J, Adomat S A
Division of Laboratory Medicine, British Columbia Cancer Agency, Canada.
Am J Clin Pathol. 1995 Apr;103(4):472-8. doi: 10.1093/ajcp/103.4.472.
This study was undertaken to compare the ability of cytogenetic analysis (CG), Southern analysis (SA) and the polymerase chain reaction (PCR) to detect the t(14; 18) in follicular lymphoma (FL). All methodologies were performed by standard techniques. The probes used for SA included major breakpoint region (mbr) and minor cluster region (mcr) probes. The primers for PCR were identical or similar to those used by other investigators. One hundred fifteen cases of FL were ascertained by morphologic criteria, from which sufficient fresh tissue was available for both CG and molecular analysis. Eleven cases failed by both methods (nonrepresentative sampling). One hundred four cases showed evidence of an abnormal clone by CG and/or immunoglobulin gene rearrangement (IgH) studies. Cytogenetic analysis failed in 2 cases, was positive for t(14; 18) in 91 of the remaining 102 cases (89%) and detected a non-t(14; 18) close in 11 cases. An IgH clonal rearrangement was confirmed in all 104 cases. Southern analysis detected a mbr or mcr rearrangement in 78 of 104 cases (75%). Polymerase chain reaction detected an mbr or mcr rearrangement in 68 of 104 cases (65%). The use of PCR as a clinical test to detect t(14; 18)-positive lymphomas, with single primer sets for the mbr and mcr, will result in a high false-negative rate. The use of additional primers to detect uncommon breakpoints sites will be required to enhance the sensitivity of PCR for detection of t(14; 18) in malignant lymphoma.
本研究旨在比较细胞遗传学分析（CG）、Southern分析（SA）和聚合酶链反应（PCR）检测滤泡性淋巴瘤（FL）中t(14; 18)的能力。所有方法均采用标准技术进行。SA所用探针包括主要断裂点区域（mbr）和次要簇区域（mcr）探针。PCR所用引物与其他研究者所用引物相同或相似。通过形态学标准确定了115例FL病例，从中获取了足够的新鲜组织用于CG和分子分析。11例两种方法均失败（取样不具代表性）。104例通过CG和/或免疫球蛋白基因重排（IgH）研究显示存在异常克隆的证据。细胞遗传学分析在2例中失败，其余102例中有91例（89%）t(14; 18)呈阳性，11例检测到非t(14; 18)紧密相关情况。所有104例均证实存在IgH克隆重排。Southern分析在104例中的78例（75%）检测到mbr或mcr重排。聚合酶链反应在104例中的68例（65%）检测到mbr或mcr重排。使用PCR作为检测t(14; 18)阳性淋巴瘤的临床检测方法，采用针对mbr和mcr的单引物组，将导致较高的假阴性率。需要使用额外的引物来检测罕见的断裂点位点，以提高PCR检测恶性淋巴瘤中t(14; 18)的敏感性。
