目的 探讨弥漫性大B细胞淋巴瘤(diffuse large B-cell lymphoma,DLBCL)患者BCL-6、MYC和p53基因的异常情况,用并分析它们与免疫学亚型及预后的关系.方法 应用间期荧光原位杂交技术分析46例DLBCL患者BCL-6、MYC和p53基因的异常情况,用免疫组织化学技术(Envision法)对DLBCL进行CD3、CD10、CD20、BCL-6、MUM-1、BCL-2和Ki-67标记,根据Hans的分类方法将其分为生发中心B细胞型(germinal center B cell,GCB型)和非生发中心B细胞型(non-germinal center B cell,non-GCB型).结果 46例患者中,BCL-6基因重排10例,BCL-6重排与BCL-6蛋白的表达两者之间差异无统计学意义(P=0.245).BCL-6基因重排与DLBCL患者的总生存时间(P=0.138)和无进展生存时间(P=0.095)无统计学相关性.MYC重排4例,全部见于GCB型.p53基因缺失14例,p53基因缺失组与p53基因正常组相比,生存时间差异有统计学意义(总生存时间:P=0.046;无进展生存时间::P=0.043).结论 间期荧光原位杂交技术可以快速、准确、灵敏的检测BCL-6、MYC和p53基因的异常.BCL-6基因重排与BCL-6蛋白的表达之间无统计学相关性.MYC重排多见于GCB亚型组,p53基因缺失的患者预后较差.p53基因可以作为判断DLBCL预后的参考指标.%Objective To investigate BCL-6,MYC and p53 genes abnormalities in diffuse large B-cell lymphoma (DLBCL) and correlate the result with immunosubtypes and prognosis.Methods Interphase fluorescence in situ hybridization (I-FISH) was performed to detect the BCL-6,MYC and p53 genes.Immunohistochemistry (Envision method) was used to measure the expressions of CD3,CD10,CD20,BCL-6,MUM-1,BCL-2 and Ki-67 genes in DLBCL.The patients were classified into germinal center B cell-like (GCB) and non-GCB subtypes according to Hans' algorithm.Results BCL-6 rearrangement was detected in 10 of 46 DLBCL cases.The presence of gene rearrangement had no correlation with BCL-6 protein expression (P=0.245).Overall survival (OS,P=0.138) and progression-free survival (PFS,P=0.095) were not influenced by BCL-6 rearrangement.All MYC rearrangements were detected in GCB type DLBCL.Deletion of p53 gene was detected in 14 cases and was significantly associated with shorter OS (P=0.046) and PFS (P =0.043).Conclusion I-FISH is a rapid,accurate and sensitive method for detecting BCL-6,MYC and p53 abnormalities.No correlation was found between BCL-6 gene rearrangement and BCL-6 protein expression.MYC translocation was more common in GCB type DLBCL compared with non-GCB type ones.Patients with p53 deletion had a poorer prognosis.The p53 gene may provide a useful indicator for the prognosis of DLBCL.
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