Mihalov M L, Huber S, Rachwalski E, Price J S, Hosso J M, Dizikes G J
Department of Pathology, Loyola University Medical Center, Maywood, Ill 60153, USA.
South Med J. 1996 Jan;89(1):39-45. doi: 10.1097/00007611-199601000-00006.
Demonstration of clonality is supportive of a diagnosis of malignancy in cases of lymphoproliferative disorders. Determination of clonality at the molecular level is currently accomplished by Southern analysis; however, the polymerase chain reaction offers a potential alternative that is rapid, simple, and less expensive. To test its feasibility as a diagnostic test, we amplified the DNA from 121 suspected lymphoproliferative disorders submitted for gene rearrangement studies. In comparison to Southern analyses, a sensitivity of 70% and specificity of 96% were obtained. To test the effect of primer variability in the joining region of the heavy-chain gene, we substituted a more degenerate primer but found no changes in sensitivity or specificity. We conclude that the polymerase chain reaction has current application with minute or fixed specimens and may generally serve as a rapid, initial evaluation for B-cell clonality, followed by Southern analysis in negative cases. However, higher overall sensitivity must be achieved before this technique can replace Southern analysis as the method of choice in determining clonal gene rearrangements.
在淋巴增殖性疾病病例中，克隆性的证明支持恶性肿瘤的诊断。目前，分子水平上克隆性的确定是通过Southern分析完成的；然而，聚合酶链反应提供了一种潜在的替代方法，它快速、简单且成本较低。为了测试其作为诊断试验的可行性，我们对提交进行基因重排研究的121例疑似淋巴增殖性疾病的DNA进行了扩增。与Southern分析相比，灵敏度为70%，特异性为96%。为了测试重链基因连接区引物变异性的影响，我们替换了一个更简并的引物，但未发现灵敏度或特异性有变化。我们得出结论，聚合酶链反应目前适用于微量或固定标本，通常可作为B细胞克隆性的快速初步评估，阴性病例随后进行Southern分析。然而，在该技术能够取代Southern分析作为确定克隆性基因重排的首选方法之前，必须实现更高的总体灵敏度。
