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目的了解CARMA1基因在弥漫性大B细胞性淋巴瘤(DLBCL)中的突变情况,及其与DLBCL临床病理特征的关系。方法采用免疫组化方法检测54例DLBCL中CD10、bcl-6、mum-1和Ki-67表达情况以确定DLBCL细胞来源及增殖活性;进行石蜡组织DNA的提取。聚合酶链反应(PCR)扩增CARMA1基因外显子5、6、7、8、9,DNA直接测序检测其突变情况,并进行临床资料分析及随访。结果 54例DLBCL标本中有4例发生错义突变(7.4%),突变位点为第8外显子的110850碱基处,G突变为A。4例均为结外(胃肠)DLBCL,其中1例为GCBDLBCL(5%),3例为ABC-DLBCL(8.8%)。4例IV期3例,Ⅲ期1例,均浸润消化道全层并累及肠外脂肪组织,1例并出现淋巴结受累。LDH均升高,国际预后指数(IPI)3例为4分(高危),1例为3分(中高危);4例中3例死亡,有2例存活时间仅2年。结论在少部分DLBCL中存在CARMA1基因的错义突变,且该突变可能与DLBCL的不良预后有关。
Objective To investigate the mutation of CARMA1 gene in diffuse large B-cell lymphoma (DLBCL) and its relationship with clinicopathological features of DLBCL. Methods Immunohistochemistry was used to detect the expression of CD10, bcl-6, mum-1 and Ki-67 in DLBCL from 54 cases to determine the origin and proliferation of DLBCL cells. DNA extraction from paraffin tissue was performed. Polymerase chain reaction (PCR) amplification CARMA1 gene exons 5, 6, 7, 8, 9, DNA direct sequencing to detect the mutation, and clinical data analysis and follow-up. Results Four of the 54 DLBCL specimens had a missense mutation (7.4%). The mutation site was located at 110850 bp of exon 8 and the G mutation was A. All 4 cases were extranodal (gastrointestinal) DLBCLs, of which 1 was GCBDLBCL (5%) and 3 was ABC-DLBCL (8.8%). 4 cases of stage IV in 3 cases, stage Ⅲ in 1 case, all infiltrating the digestive tract full of parenteral adipose tissue and 1 case and lymph node involvement. LDH were elevated in 3 of 3 cases (high risk) in International Prognostic Index (IPI) and 3 in 1 case (middle and high risk); 3 of 4 died and 2 of 2 survived. Conclusion There is a missense mutation of CARMA1 gene in a few DLBCL, and the mutation may be related to the poor prognosis of DLBCL.