睾丸弥漫大B细胞淋巴瘤中MyD88及CD79B基因突变及意义  

CD79B and MyD88 gene mutation in primary testicular diffuse large B cell lymphoma

作　　者：马世荣[1,2] 刘杨[2] 刘芳[2] 王映梅[1,2] 王哲[1,2] 郭双平[1,2] 

机构地区：[1]第四军医大学病理学教研室,西安710032 [2]第四军医大学西京医院病理科,西安710032

出　　处：《临床与实验病理学杂志》2017年第12期1311-1315,共5页Chinese Journal of Clinical and Experimental Pathology

基　　金：国家自然科学基金(81472597)

摘　　要：目的探讨睾丸原发性弥漫大B细胞淋巴瘤(diffuse large B cell lymphoma,DLBCL)中MyD88及CD79B基因突变及意义。方法回顾性分析15例睾丸原发性DLBCL的临床病理学特点,采用免疫组化及Sanger测序法检测原发性DLBCL中MyD88及CD79 B基因突变,分析MyD88及CD79B基因突变与肿瘤临床病理学特点、NF-κB蛋白在细胞核表达之间的关系。结果免疫组化显示15例DLBCL均为非生发中心B(non germinal center B,non-GCB)细胞型,4例存在CD79B基因Y196位点突变(26.7%),7例存在MyD88基因L265位点突变(46.7%),3例同时存在CD79B及MyD88基因突变(20%)。8例患者获得随访,未发现CD79B及MyD88基因突变与预后的相关性。结论中国人睾丸原发性DLBCL中存在较高的CD79B基因Y196位点和(或)MyD88基因L265位点突变,为针对这些突变基因的分子靶向治疗提供依据。Purpose To explore the mutation of CD79B and MyD88 in primary testicular diffuse large B cell lymphoma and their significance. Methods Histopathologic features were observed in 15 cases of primary testicular diffuse large B cell lymphoma and immunophenotype was analyzed by immunohisto- chemical staining （IHC）. Sanger sequencing was used to detect CD79B Y196 and MyD88 L265 mutation in these cases. The re- lationship between CD79B, MyD88 mutation and the clinico- pathological features was analyzed. Results Immunophenotypi- cally, 15 cases were non germinal center B cell type. CD79B （Y196） mutation was detected in 4 cases （26.7%）. For MyD88, L265 mutation was found in 7 cases （46.7%）. CD79B and MyD88 mutations were found in 3 cases. The follow-up information was obtained in 8 patients. No association was found between CD79B, MyD88 mutation and outcome of pa- tients. Conclusion Primary testicular diffuse large B cell lym- phoma of non germinal center B cell type is a rare aggressive B cell lymphoma with poor prognosis and poor response to chemo- therapy. CD79B, MyD88 gene mutation was detected in Chinese patients with frequency of 26. 7% and 46. 7% respectively. It is possible for molecular targeted therapy of the primary testieular diffuse large B cell lymphoma on the basis of high frequency of CD79B and MyD88 gene mutation.

关 键 词：睾丸肿瘤 淋巴瘤 原发性弥漫大B细胞淋巴瘤 免疫表型 MyD88基因突变 CD79B基因突变 预后 

分 类 号：R737.21[医药卫生—肿瘤] R733.4[医药卫生—临床医学]