Oscier D G, Gardiner A C
Department of Haematology, Royal Bournemouth Hospital, Castle Lane East, Bournemouth, BH7 7DW, UK.
Best Pract Res Clin Haematol. 2001 Sep;14(3):609-30. doi: 10.1053/beha.2001.0157.
The majority of B cell lymphomas, but only a minority of T cell lymphomas, are characterized by recurring chromosome translocations. Many involve the immunoglobulin or T cell receptor loci with various partner chromosomes and lead to abnormal proto-oncogene expression. Other recurring translocations result in the production of a novel fusion protein. The detection of translocations is of particular value in diagnosis and in the detection of minimal residual disease. Aneuploidy and deletion of specific chromosome regions are common secondary chromosomal events which are rarely specific to a particular type of lymphoma but provide valuable prognostic information. Analysis by G banding, 24-colour FISH and CGH provides global genomic information; however, more specifically directed investigations utilizing locus-specific FISH probes, PCR techniques or monoclonal antibodies may be more appropriate to answer particular questions regarding diagnosis and prognosis. The known molecular consequences of abnormalities and the appropriate methods of detection are discussed for each subtype of lymphoma.
大多数B细胞淋巴瘤，但只有少数T细胞淋巴瘤，其特征是存在反复出现的染色体易位。许多易位涉及免疫球蛋白或T细胞受体基因座与各种伙伴染色体，并导致原癌基因异常表达。其他反复出现的易位会导致产生一种新的融合蛋白。易位的检测在诊断和微小残留病的检测中具有特殊价值。非整倍体和特定染色体区域的缺失是常见的继发性染色体事件，很少对特定类型的淋巴瘤具有特异性，但可提供有价值的预后信息。通过G显带、24色荧光原位杂交（FISH）和比较基因组杂交（CGH）进行分析可提供全局基因组信息；然而，利用位点特异性FISH探针、聚合酶链反应（PCR）技术或单克隆抗体进行更具针对性的研究可能更适合回答有关诊断和预后的特定问题。针对淋巴瘤的每个亚型，讨论了异常的已知分子后果和合适的检测方法。
