Papadopoulos K P, Bagg A, Bezwoda W R, Mendelow B V
Hematology Department, School of Pathology, South African Institute for Medical Research, Johannesburg.
Am J Clin Pathol. 1989 Jun;91(6):633-8. doi: 10.1093/ajcp/91.6.633.
Immunophenotypic studies have a well-documented role in the assignment of lineage in the lymphoproliferative disorders. With the exception of mature B-cell disorders, it is difficult to demonstrate clonality by immunophenotypic studies. The advent of specific DNA probes for immunoglobulin and T-cell receptor genes has greatly facilitated the detection of clonality and, to a lesser degree, lineage, in these cases. The authors have evaluated the diagnostic utility of these probes and compared them with standard immunophenotyping in 65 patients with a variety of lymphoproliferative disorders. Their results show a significant correlation (P less than 0.01) between lineage assignment as determined by phenotyping and gene rearrangement studies, with the latter far superior in determining clonality. Furthermore, analysis of gene rearrangements facilitated the documentation of lineage and/or clonality in six cases in which standard techniques had failed. Although the scientific basis of the study of gene rearrangements has been well established, the authors wish to emphasize the role that these techniques have in evaluating problem cases in the routine diagnostic laboratory.
免疫表型研究在淋巴增生性疾病的谱系确定中具有充分记载的作用。除成熟B细胞疾病外，通过免疫表型研究很难证明克隆性。用于免疫球蛋白和T细胞受体基因的特异性DNA探针的出现极大地促进了这些病例中克隆性的检测，在较小程度上也促进了谱系的检测。作者评估了这些探针的诊断效用，并将其与65例各种淋巴增生性疾病患者的标准免疫表型分析进行了比较。他们的结果表明，通过表型分析和基因重排研究确定的谱系之间存在显著相关性（P小于0.01），后者在确定克隆性方面远优于前者。此外，基因重排分析有助于在6例标准技术失败的病例中记录谱系和/或克隆性。尽管基因重排研究的科学基础已经确立，但作者希望强调这些技术在常规诊断实验室评估疑难病例中的作用。
