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...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。展开更多
CD79, a key component of the B cell antigen receptor complex, is composed of CD79a（Igα and CD7913（Igβ） encoded by rnb-1 and B29 respectively, and plays an important role in B cell signaling. In this study, we iso...CD79, a key component of the B cell antigen receptor complex, is composed of CD79a（Igα and CD7913（Igβ） encoded by rnb-1 and B29 respectively, and plays an important role in B cell signaling. In this study, we isolated and characterized rob-1 and B29 from humphead snapper （Lutjanus sanguineus）. Their tissue distribution and expression profiles after stimulations in vitro and in vivo were also investigated. The humphead snapper rob-1 and B29 contain open reading frames of 684 bp and 606 bp, encoding 227 amino acids and 201 amino acids, respectively. Both CD79α and CD79β possess signal peptide, extracellular Ig domain, transmem- brane region and immunoreceptor tyrosine kinase activation motif （ITAM）. Mb-1 is highly expressed in lymphoid organs （thymus, posterior kidney and spleen） and mucosal-associated lymphoid tissues （gill and intestine）, while B29 is mainly detected in posterior kidney, spleen, gill and skin. Furthermore, transcription of rob-1 and B29 in head kidney leucocytes was up-regulated following lipopolysaccharide （LPS）, pokeweed mitogen （PWM）, and polyinosinic-polycytidylic acid （PolyI：C） stimulation, respectively, and their expression level in anterior kidney and spleen was also increased after challenged with formalin-inactived Vibrio harveyi. These results indicated that humphead snapper CD79 molecule might play an important role in immune response to pathogen infection.展开更多
目的探讨弥漫大B细胞淋巴瘤(diffuse large B-cell lymphoma,DLBCL)中MYD88、CD79B基因突变与其临床病理特征及预后的相关性。方法对2016年10月~2020年7月苏州大学附属第三医院89例经病理学诊断的DLBCL进行回顾性分析。应用二代测序技...目的探讨弥漫大B细胞淋巴瘤(diffuse large B-cell lymphoma,DLBCL)中MYD88、CD79B基因突变与其临床病理特征及预后的相关性。方法对2016年10月~2020年7月苏州大学附属第三医院89例经病理学诊断的DLBCL进行回顾性分析。应用二代测序技术检测患者基因变异情况,并分析MYD88、CD79B基因与临床病理特征及预后的关系。结果89例DLBCL中MYD88基因突变、CD79B基因突变和MYD88/CD79B基因双突变的频率分别为20.2%、21.3%、6.7%。MYD88基因在非生发中心B细胞(non-germinal center B-cell-like,non-GCB)型、BCL-2阳性、c-MYC/BCL-2双阳性和Ki-67增殖指数高的病例中具有较高的突变频率(P<0.05)。CD79B基因在non-GCB型及Ki-67增殖指数高的病例中具有较高的突变频率(P<0.05)。MYD88/CD79B基因双突变在c-MYC/BCL-2双阳性及Ki-67增殖指数高的病例中具有较高的突变频率(P<0.05)。MYD88基因突变和MYD88/CD79B基因双突变病例在中期疗效评估时其完全缓解率均低于非突变病例(P<0.05)。单因素Kaplan-Meier生存分析显示:MYD88基因突变和MYD88/CD79B基因双突变患者的总生存期及无进展生存期均低于非突变组(P<0.05)。结论MYD88基因突变DLBCL更常见于non-GCB型,具有较高的Ki-67增殖指数、BCL-2阳性和c-MYC/BCL-2共阳性的特点;CD79B基因突变DLBCL更常见于non-GCB型,Ki-67增殖指数较高;MYD88/CD79B基因双突变DLBCL具有较高的Ki-67增殖指数和c-MYC/BCL-2共阳性的特点。MYD88基因突变、MYD88/CD79B基因双突变影响DLBCL患者化疗效果及长期生存。展开更多
BACKGROUNDOver the past 20 years,we have gained a deep understanding of the biologicalheterogeneity of diffuse large B cell lymphoma(DLBCL)and have developed arange of new treatment programs based on the characteristi...BACKGROUNDOver the past 20 years,we have gained a deep understanding of the biologicalheterogeneity of diffuse large B cell lymphoma(DLBCL)and have developed arange of new treatment programs based on the characteristics of the disease,bringing us to the era of immune-chemotherapy.However,the effectiveness andmolecular mechanisms of targeted-immunotherapy remain unclear in DLBCL.Targeted-immunotherapy may be beneficial for specific subgroups of patients,thus requiring biomarker assessment.CASE SUMMARYHere,we report a case of MCD subtype DLBCL with MYD88L265P and CD79Bmutations,considered in the initial stage as lymphoplasmic lymphoma(LPL)orWaldenstrom macroglobulinemia(WM).Flow cytometry supported this view;however,the immunohistochemical results of the lymph nodes overturned theabove diagnosis,and the patient was eventually diagnosed with MCD subtypeDLBCL.The presence of a monoclonal IgM component in the serum and infiltrationof small lymphocytes with a phenotype compatible with WM into the bonemarrow led us to propose a hypothesis that the case we report may have transformedfrom LPL/WM.CONCLUSIONThis highlights the possible transformation from WM to DLBCL,CD79B mutationmay be a potential biomarker for predicting this conversion.展开更多
文摘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。
基金supported by the National Science&Technology Pillar Program of China(2012BAD17B02,2012BAD17B03)the National Natural Science Foundation of China(41240041,31402335)
文摘CD79, a key component of the B cell antigen receptor complex, is composed of CD79a（Igα and CD7913（Igβ） encoded by rnb-1 and B29 respectively, and plays an important role in B cell signaling. In this study, we isolated and characterized rob-1 and B29 from humphead snapper （Lutjanus sanguineus）. Their tissue distribution and expression profiles after stimulations in vitro and in vivo were also investigated. The humphead snapper rob-1 and B29 contain open reading frames of 684 bp and 606 bp, encoding 227 amino acids and 201 amino acids, respectively. Both CD79α and CD79β possess signal peptide, extracellular Ig domain, transmem- brane region and immunoreceptor tyrosine kinase activation motif （ITAM）. Mb-1 is highly expressed in lymphoid organs （thymus, posterior kidney and spleen） and mucosal-associated lymphoid tissues （gill and intestine）, while B29 is mainly detected in posterior kidney, spleen, gill and skin. Furthermore, transcription of rob-1 and B29 in head kidney leucocytes was up-regulated following lipopolysaccharide （LPS）, pokeweed mitogen （PWM）, and polyinosinic-polycytidylic acid （PolyI：C） stimulation, respectively, and their expression level in anterior kidney and spleen was also increased after challenged with formalin-inactived Vibrio harveyi. These results indicated that humphead snapper CD79 molecule might play an important role in immune response to pathogen infection.
文摘目的探讨弥漫大B细胞淋巴瘤(diffuse large B-cell lymphoma,DLBCL)中MYD88、CD79B基因突变与其临床病理特征及预后的相关性。方法对2016年10月~2020年7月苏州大学附属第三医院89例经病理学诊断的DLBCL进行回顾性分析。应用二代测序技术检测患者基因变异情况,并分析MYD88、CD79B基因与临床病理特征及预后的关系。结果89例DLBCL中MYD88基因突变、CD79B基因突变和MYD88/CD79B基因双突变的频率分别为20.2%、21.3%、6.7%。MYD88基因在非生发中心B细胞(non-germinal center B-cell-like,non-GCB)型、BCL-2阳性、c-MYC/BCL-2双阳性和Ki-67增殖指数高的病例中具有较高的突变频率(P<0.05)。CD79B基因在non-GCB型及Ki-67增殖指数高的病例中具有较高的突变频率(P<0.05)。MYD88/CD79B基因双突变在c-MYC/BCL-2双阳性及Ki-67增殖指数高的病例中具有较高的突变频率(P<0.05)。MYD88基因突变和MYD88/CD79B基因双突变病例在中期疗效评估时其完全缓解率均低于非突变病例(P<0.05)。单因素Kaplan-Meier生存分析显示:MYD88基因突变和MYD88/CD79B基因双突变患者的总生存期及无进展生存期均低于非突变组(P<0.05)。结论MYD88基因突变DLBCL更常见于non-GCB型,具有较高的Ki-67增殖指数、BCL-2阳性和c-MYC/BCL-2共阳性的特点;CD79B基因突变DLBCL更常见于non-GCB型,Ki-67增殖指数较高;MYD88/CD79B基因双突变DLBCL具有较高的Ki-67增殖指数和c-MYC/BCL-2共阳性的特点。MYD88基因突变、MYD88/CD79B基因双突变影响DLBCL患者化疗效果及长期生存。
文摘BACKGROUNDOver the past 20 years,we have gained a deep understanding of the biologicalheterogeneity of diffuse large B cell lymphoma(DLBCL)and have developed arange of new treatment programs based on the characteristics of the disease,bringing us to the era of immune-chemotherapy.However,the effectiveness andmolecular mechanisms of targeted-immunotherapy remain unclear in DLBCL.Targeted-immunotherapy may be beneficial for specific subgroups of patients,thus requiring biomarker assessment.CASE SUMMARYHere,we report a case of MCD subtype DLBCL with MYD88L265P and CD79Bmutations,considered in the initial stage as lymphoplasmic lymphoma(LPL)orWaldenstrom macroglobulinemia(WM).Flow cytometry supported this view;however,the immunohistochemical results of the lymph nodes overturned theabove diagnosis,and the patient was eventually diagnosed with MCD subtypeDLBCL.The presence of a monoclonal IgM component in the serum and infiltrationof small lymphocytes with a phenotype compatible with WM into the bonemarrow led us to propose a hypothesis that the case we report may have transformedfrom LPL/WM.CONCLUSIONThis highlights the possible transformation from WM to DLBCL,CD79B mutationmay be a potential biomarker for predicting this conversion.
