Lust J A
Molecular Genetics Laboratory, Mayo Clinic, Rochester, Minnesota 55905, USA.
J Clin Lab Anal. 1996;10(6):359-67. doi: 10.1002/(SICI)1098-2825(1996)10:6<359::AID-JCLA7>3.0.CO;2-1.
Clonality of T- and B-cell lymphoproliferative disorders can be determined by gene rearrangement studies when morphology and surface immunostaining are nondiagnostic. TcR and lg gene rearrangements have been demonstrated in many different hematologic disorders and TcR gene rearrangement has been particularly useful in the diagnosis of patients with CD8 large granular lymphocyte leukemias. TcR gene rearrangement may also be useful to distinguish Hodgkin's disease from T-cell non-Hodgkin's lymphoma. Gene rearrangement is usually performed by Southern analysis, and it is beneficial to run multiple enzyme-probe combinations to maximize the detection of clonal rearrangements. More recently, several laboratories have begun to use polymerase chain reaction (PCR) for gene rearrangement analysis. PCR offers an improved turnaround time, eliminates partial digestion artifacts, and allows for the use of paraffin embedded material. In addition to rearrangements of the TcR and lg genes, analysis of alterations in other genes such as bcl-1, bcl-2, bcl-6, and c-myc are also useful as clonal markers and aid in the classification of lymphomas.
当形态学和表面免疫染色无法做出诊断时，可通过基因重排研究来确定T细胞和B细胞淋巴增殖性疾病的克隆性。在许多不同的血液系统疾病中均已证实存在T细胞受体（TcR）和免疫球蛋白（lg）基因重排，TcR基因重排在诊断CD8大颗粒淋巴细胞白血病患者中特别有用。TcR基因重排对于区分霍奇金病和T细胞非霍奇金淋巴瘤也可能有用。基因重排通常通过Southern分析进行，进行多种酶-探针组合检测有利于最大限度地检测到克隆性重排。最近，一些实验室已开始使用聚合酶链反应（PCR）进行基因重排分析。PCR可缩短周转时间，消除部分消化假象，并允许使用石蜡包埋材料。除了TcR和lg基因重排外，分析其他基因如bcl-1、bcl-2、bcl-6和c-myc的改变作为克隆性标志物也很有用，并有助于淋巴瘤的分类。
