目的探讨原发性涎腺黏液表皮样癌(mucoepidermoid carcinoma,MEC)中MAML2基因重排与临床病理特征的相关性。方法采用荧光原位杂交(fluorescence in situ hybridization,FISH)检测28例原发性涎腺MEC中MAML2基因重排;应用免疫组化EnVisio...目的探讨原发性涎腺黏液表皮样癌(mucoepidermoid carcinoma,MEC)中MAML2基因重排与临床病理特征的相关性。方法采用荧光原位杂交(fluorescence in situ hybridization,FISH)检测28例原发性涎腺MEC中MAML2基因重排;应用免疫组化EnVision两步法检测CK7、p63、CK5/6、S-100、CD117的表达,并进行诊断及鉴别诊断。结果28例MEC中有17例(14例低级别、3例中级别)MAML2基因重排,检出率为60.7%(17/28),其中包含Warthin瘤样变异型和透明细胞变异型。MAML2基因重排与肿瘤部位、病理分级密切相关,发生在腮腺、低级别的MEC中MAML2基因重排发生率显著增高(P<0.05),MAML2基因重排与患者年龄、性别、肿瘤最大径、淋巴结有无转移、临床分期无相关性(P>0.05)。结论MAML2基因重排与肿瘤发生部位、病理分级密切相关,MAML2基因重排阳性可以辅助诊断变异型MEC。展开更多
化生型胸腺瘤(metaplastic thymoma,MT)是一类罕见类型的胸腺瘤,目前国内外多以小规模研究和个案报道对经典组织学形态的MT进行总结。现报道1例形态学不典型的MT,患者,男,44岁,因“体检发现纵隔肿物1月余”入院。影像学提示纵隔占位,患...化生型胸腺瘤(metaplastic thymoma,MT)是一类罕见类型的胸腺瘤,目前国内外多以小规模研究和个案报道对经典组织学形态的MT进行总结。现报道1例形态学不典型的MT,患者,男,44岁,因“体检发现纵隔肿物1月余”入院。影像学提示纵隔占位,患者于2022年10月在浙江大学医学院附属第一医院行“纵隔肿物切除术”,大体观:灰黄脂肪样组织一块,切面见一灰白肿物,质稍硬,界限尚清。镜检示:低倍镜下肿瘤呈结节状,无明显纤维包膜,未见分叶状结构,血管周围间隙不明显,区域可见少量胶原纤维分隔;高倍镜下深染区由丰富的上皮样细胞和少许胖梭形细胞组成,背景中仅见少许淋巴细胞,部分瘤细胞呈漩涡状结构伴鳞状分化。免疫组织化学染色示:P40、P63、细胞角蛋白19(cytokeratin 19,CK19)和广谱角蛋白(cytokeratin-pan,CK-pan)阳性,黏蛋白-1(mucin-1,MUC-1)和波形蛋白(vimentin)少量阳性,CD3、CD5少量T淋巴细胞阳性,P53部分弱至中等阳性,β-联蛋白膜阳性,CD20、CD117、配对框8(paired box protein 8,PAX-8)、嗜铬粒蛋白A(chromogranin A,CgA)、突触素(synapsin,Syn)、末端脱氧核苷酸转移酶(terminal transferase,TdT)、信号转导及转录激活因子(signal transducer and activator of transcription,STAT)6和睾丸核蛋白(nuclear protein of the testis,NUT)均阴性,细胞增殖指数Ki-67低表达。YES关联蛋白1-主导控制样转录激活蛋白2(Yes associated protein 1-mastermind like transcriptional coactivator 2,YAP1-MAML2)融合基因荧光原位杂交检测结果为阳性。术后病理诊断为MT。Masaoka分期为Ⅱ期。患者术后予6次放射治疗,随访14个月为无病生存状态。展开更多
Background:The differential diagnosis of mucoepidermoid carcinoma(MEC)from neoplasm undergoing mucinous features brings more pitfalls to pathologists.Combining specific MAML2 gene rearrangement and histological charac...Background:The differential diagnosis of mucoepidermoid carcinoma(MEC)from neoplasm undergoing mucinous features brings more pitfalls to pathologists.Combining specific MAML2 gene rearrangement and histological characteristics may be the solution.Methods:Twenty-five tumors with mucinous components were selected for differential diagnosis of MEC.All the cases were detected for MAML2 gene rearrangement.The cases diagnosed as MEC were classified into four variants:classic,oncocytic,Warthin-like,and nonclassified,and they were graded using the Brandwein system.The histological characteristics of non-MECs were summarized for differential diagnosis.Univariate survival analysis was performed on MECs.Results:There were 16 MECs;62.5%were MAML2 rearranged.For the low-,intermediate-,and high-grade MECs,the rate of rearrangement was 83.3%,100%,and 28.6%,respectively.Both the oncocytic and Warthinlike MECs were MAML2 rearranged.For the classic and nonclassified MECs without MAML2 rearrangement,non-keratinized squamoid cells and distinctive mucinous cells were essential diagnostic criteria.On survival analysis,all the disease progression occurred in high-grade MECs(p=0.038).Nine cases were diagnosed as non-MECs:pleomorphic adenoma with mucinous metaplasia showed no ex-capsular involvement;metaplastic Warthin tumor appeared with overt keratinization and residual oncocytic bilayered epithelium;mix squamous cell and glandular papilloma showed an endobronchial papillary growing pattern;adenosquamous carcinoma was accompanied by squamous carcinoma in situ of the overlying mucosa.All the non-MECs were negative for MAML2 rearrangement.Conclusion:The application of combining MAML2 rearrangement and histological characteristics is helpful in the differential diagnosis between MEC and other tumors with mucinous components.展开更多
文摘目的探讨原发性涎腺黏液表皮样癌(mucoepidermoid carcinoma,MEC)中MAML2基因重排与临床病理特征的相关性。方法采用荧光原位杂交(fluorescence in situ hybridization,FISH)检测28例原发性涎腺MEC中MAML2基因重排;应用免疫组化EnVision两步法检测CK7、p63、CK5/6、S-100、CD117的表达,并进行诊断及鉴别诊断。结果28例MEC中有17例(14例低级别、3例中级别)MAML2基因重排,检出率为60.7%(17/28),其中包含Warthin瘤样变异型和透明细胞变异型。MAML2基因重排与肿瘤部位、病理分级密切相关,发生在腮腺、低级别的MEC中MAML2基因重排发生率显著增高(P<0.05),MAML2基因重排与患者年龄、性别、肿瘤最大径、淋巴结有无转移、临床分期无相关性(P>0.05)。结论MAML2基因重排与肿瘤发生部位、病理分级密切相关,MAML2基因重排阳性可以辅助诊断变异型MEC。
文摘化生型胸腺瘤(metaplastic thymoma,MT)是一类罕见类型的胸腺瘤,目前国内外多以小规模研究和个案报道对经典组织学形态的MT进行总结。现报道1例形态学不典型的MT,患者,男,44岁,因“体检发现纵隔肿物1月余”入院。影像学提示纵隔占位,患者于2022年10月在浙江大学医学院附属第一医院行“纵隔肿物切除术”,大体观:灰黄脂肪样组织一块,切面见一灰白肿物,质稍硬,界限尚清。镜检示:低倍镜下肿瘤呈结节状,无明显纤维包膜,未见分叶状结构,血管周围间隙不明显,区域可见少量胶原纤维分隔;高倍镜下深染区由丰富的上皮样细胞和少许胖梭形细胞组成,背景中仅见少许淋巴细胞,部分瘤细胞呈漩涡状结构伴鳞状分化。免疫组织化学染色示:P40、P63、细胞角蛋白19(cytokeratin 19,CK19)和广谱角蛋白(cytokeratin-pan,CK-pan)阳性,黏蛋白-1(mucin-1,MUC-1)和波形蛋白(vimentin)少量阳性,CD3、CD5少量T淋巴细胞阳性,P53部分弱至中等阳性,β-联蛋白膜阳性,CD20、CD117、配对框8(paired box protein 8,PAX-8)、嗜铬粒蛋白A(chromogranin A,CgA)、突触素(synapsin,Syn)、末端脱氧核苷酸转移酶(terminal transferase,TdT)、信号转导及转录激活因子(signal transducer and activator of transcription,STAT)6和睾丸核蛋白(nuclear protein of the testis,NUT)均阴性,细胞增殖指数Ki-67低表达。YES关联蛋白1-主导控制样转录激活蛋白2(Yes associated protein 1-mastermind like transcriptional coactivator 2,YAP1-MAML2)融合基因荧光原位杂交检测结果为阳性。术后病理诊断为MT。Masaoka分期为Ⅱ期。患者术后予6次放射治疗,随访14个月为无病生存状态。
基金Beijing Hope Run Special Fund of Cancer Foundation of China(Grant/Award Number: LC2018A19)
文摘Background:The differential diagnosis of mucoepidermoid carcinoma(MEC)from neoplasm undergoing mucinous features brings more pitfalls to pathologists.Combining specific MAML2 gene rearrangement and histological characteristics may be the solution.Methods:Twenty-five tumors with mucinous components were selected for differential diagnosis of MEC.All the cases were detected for MAML2 gene rearrangement.The cases diagnosed as MEC were classified into four variants:classic,oncocytic,Warthin-like,and nonclassified,and they were graded using the Brandwein system.The histological characteristics of non-MECs were summarized for differential diagnosis.Univariate survival analysis was performed on MECs.Results:There were 16 MECs;62.5%were MAML2 rearranged.For the low-,intermediate-,and high-grade MECs,the rate of rearrangement was 83.3%,100%,and 28.6%,respectively.Both the oncocytic and Warthinlike MECs were MAML2 rearranged.For the classic and nonclassified MECs without MAML2 rearrangement,non-keratinized squamoid cells and distinctive mucinous cells were essential diagnostic criteria.On survival analysis,all the disease progression occurred in high-grade MECs(p=0.038).Nine cases were diagnosed as non-MECs:pleomorphic adenoma with mucinous metaplasia showed no ex-capsular involvement;metaplastic Warthin tumor appeared with overt keratinization and residual oncocytic bilayered epithelium;mix squamous cell and glandular papilloma showed an endobronchial papillary growing pattern;adenosquamous carcinoma was accompanied by squamous carcinoma in situ of the overlying mucosa.All the non-MECs were negative for MAML2 rearrangement.Conclusion:The application of combining MAML2 rearrangement and histological characteristics is helpful in the differential diagnosis between MEC and other tumors with mucinous components.
