空肠转换/蔗糖非发酵相关和基质关联的染色质肌动蛋白依赖性调节因子亚家族B成员1[Switch/sucrose non-fermentable(SWI/SNF)-related matrix-associated actin-dependent regulator of chromatin subfamily B member 1,SMARCB1][整合...空肠转换/蔗糖非发酵相关和基质关联的染色质肌动蛋白依赖性调节因子亚家族B成员1[Switch/sucrose non-fermentable(SWI/SNF)-related matrix-associated actin-dependent regulator of chromatin subfamily B member 1,SMARCB1][整合酶相互作用因子1(integrase interactor 1,INI1)]缺失型伴横纹肌样特征未分化癌属于罕见且高度侵袭性的消化道上皮恶性肿瘤,目前缺乏统一诊疗路径,临床预后差。本文报告1例SMARCB1(INI1)缺失型伴横纹肌样特征未分化癌。患者,男,68岁,2024年12月9日因“左侧腹痛、食欲减退,进食后呕吐1个月”就诊于贵州医科大学附属医院。腹部计算机断层扫描(computed tomography,CT)提示左中下腹恶性占位并腹膜后多发淋巴结肿大。术中见近段空肠巨大肿物累及系膜并包绕肠系膜上动脉。组织形态学显示肿瘤浸润肠壁全层,呈片状、巢状、索状及假腺样排列,伴大片坏死、明显细胞异型及高核分裂活性。免疫组织化学(immunohistochemistry,IHC)示细胞角蛋白(cytokeratin,CK)阳性,SMARCB1核表达完全缺失,而转换/蔗糖非发酵相关和基质关联的染色质肌动蛋白依赖性调节因子亚家族A成员4[Switch/sucrose non-fermentable(SWI/SNF)-related matrix-associated actin-dependent regulator of chromatin subfamily A member 4,SMARCA4]表达保留,Ki-67增殖指数约为80%。患者术后病情持续进展,未接受后续放化疗,于自主出院2周后死亡。本病例提示,对进展迅速且形态未分化的小肠肿瘤,应尽早进行病理活体组织检查并联合IHC评估SMARCB1状态,以提高早期识别能力与精准诊断水平。展开更多
目的:通过研究SMARCB1在肝细胞癌(hepatocellular carcinoma,HCC)组织的表达,阐明其对HCC的早期诊断及预后的作用。方法:在癌症基因组图集(The Cancer Genome Atlas,TCGA)数据库中筛选出SMARCB1基因,运用免疫组织化学(immunohistochemis...目的:通过研究SMARCB1在肝细胞癌(hepatocellular carcinoma,HCC)组织的表达,阐明其对HCC的早期诊断及预后的作用。方法:在癌症基因组图集(The Cancer Genome Atlas,TCGA)数据库中筛选出SMARCB1基因,运用免疫组织化学(immunohistochemistry,IHC)技术和TCGA分析SMARCB1在HCC组织和正常组织的表达情况,阐述其在HCC发生、发展进程中的作用。结果:IHC结果证实,与正常肝组织相比,HCC中SMARCB1的蛋白表达量显著上升(P<0.01)。IHC的结果显示SMARCB1的蛋白表达量与原发肿瘤分期呈正相关(P<0.05),即SMARCB1表达量越高,原发肿瘤分期越趋向晚期。TCGA的结果显示SMARCB1的高表达是HCC的独立预后因素(P<0.05)。结论:SMARCB1可能起着促癌基因的作用,临床上根据其在组织中的表达差异,可鉴别早期的HCC及良性组织,并可能有效地进行预后判断。展开更多
BACKGROUND SMARCB1/INI1-deficient pancreatic undifferentiated rhabdoid carcinoma is a very aggressive tumor that is rarely reported in the literature.The tumor has a predominant rhabdoid cell component and different p...BACKGROUND SMARCB1/INI1-deficient pancreatic undifferentiated rhabdoid carcinoma is a very aggressive tumor that is rarely reported in the literature.The tumor has a predominant rhabdoid cell component and different patterns of growth have been reported.CASE SUMMARY A 59-year-old woman presented with diffuse abdominal pain,increasing in severity and accompanied by weight loss,nausea,and vomiting.Imaging showed a pancreatic head mass.Fine needle aspiration demonstrated atypical epithelioid cells with a pseudopapillary growth pattern suggestive of solid pseudopapillary neoplasm.The excised neoplasm showed monotonous epithelioid and focally spindle cells with pseudopapillary structures,rhabdoid features,and loss of SMARCB1 protein expression with wild-type KRAS,consistent with a SMARCB1/INI1-deficient undifferentiated rhabdoid carcinoma.The patient’s condition deteriorated rapidly following surgery and she expired 3 mo post operation.CONCLUSION In this article,we report the first case of SMARCB1/INI1-deficient undifferentiated pancreatic rhabdoid carcinoma mimicking solid pseudopapillary neoplasm.展开更多
BACKGROUND SMARCB1/INI-1 deficient sinonasal carcinoma(SDSC)is a rare subset of sinonasal undifferentiated carcinoma with a poor prognosis.Here,we present two case reports of SDSC patients.We also review the literatur...BACKGROUND SMARCB1/INI-1 deficient sinonasal carcinoma(SDSC)is a rare subset of sinonasal undifferentiated carcinoma with a poor prognosis.Here,we present two case reports of SDSC patients.We also review the literature on this tumor.This is the first published report of SDSC treatment with immunotherapy.CASE SUMMARY Here we present two patient cases of SDSC in which initial consultation and diagnosis were complicated but SDSC was ultimately diagnosed.One patient received a traditional treatment of surgery and adjuvant chemoradiotherapy,while the other patient received additional immunotherapy;the prognoses of these two patients differed.We review previous diagnostic literature reports and SDSC treatments and provide a unique perspective on this rare type of tumor.CONCLUSION SDSC is a rare,diagnostically challenging carcinoma with a consistently poor prognosis,early distant metastases,and frequent recurrence.Timely diagnosis and intervention are critical for treatment,for which the standard of care is surgery followed by adjuvant chemoradiotherapy,though immunotherapy may be an effective new treatment for SDSC.展开更多
文摘空肠转换/蔗糖非发酵相关和基质关联的染色质肌动蛋白依赖性调节因子亚家族B成员1[Switch/sucrose non-fermentable(SWI/SNF)-related matrix-associated actin-dependent regulator of chromatin subfamily B member 1,SMARCB1][整合酶相互作用因子1(integrase interactor 1,INI1)]缺失型伴横纹肌样特征未分化癌属于罕见且高度侵袭性的消化道上皮恶性肿瘤,目前缺乏统一诊疗路径,临床预后差。本文报告1例SMARCB1(INI1)缺失型伴横纹肌样特征未分化癌。患者,男,68岁,2024年12月9日因“左侧腹痛、食欲减退,进食后呕吐1个月”就诊于贵州医科大学附属医院。腹部计算机断层扫描(computed tomography,CT)提示左中下腹恶性占位并腹膜后多发淋巴结肿大。术中见近段空肠巨大肿物累及系膜并包绕肠系膜上动脉。组织形态学显示肿瘤浸润肠壁全层,呈片状、巢状、索状及假腺样排列,伴大片坏死、明显细胞异型及高核分裂活性。免疫组织化学(immunohistochemistry,IHC)示细胞角蛋白(cytokeratin,CK)阳性,SMARCB1核表达完全缺失,而转换/蔗糖非发酵相关和基质关联的染色质肌动蛋白依赖性调节因子亚家族A成员4[Switch/sucrose non-fermentable(SWI/SNF)-related matrix-associated actin-dependent regulator of chromatin subfamily A member 4,SMARCA4]表达保留,Ki-67增殖指数约为80%。患者术后病情持续进展,未接受后续放化疗,于自主出院2周后死亡。本病例提示,对进展迅速且形态未分化的小肠肿瘤,应尽早进行病理活体组织检查并联合IHC评估SMARCB1状态,以提高早期识别能力与精准诊断水平。
文摘目的:通过研究SMARCB1在肝细胞癌(hepatocellular carcinoma,HCC)组织的表达,阐明其对HCC的早期诊断及预后的作用。方法:在癌症基因组图集(The Cancer Genome Atlas,TCGA)数据库中筛选出SMARCB1基因,运用免疫组织化学(immunohistochemistry,IHC)技术和TCGA分析SMARCB1在HCC组织和正常组织的表达情况,阐述其在HCC发生、发展进程中的作用。结果:IHC结果证实,与正常肝组织相比,HCC中SMARCB1的蛋白表达量显著上升(P<0.01)。IHC的结果显示SMARCB1的蛋白表达量与原发肿瘤分期呈正相关(P<0.05),即SMARCB1表达量越高,原发肿瘤分期越趋向晚期。TCGA的结果显示SMARCB1的高表达是HCC的独立预后因素(P<0.05)。结论:SMARCB1可能起着促癌基因的作用,临床上根据其在组织中的表达差异,可鉴别早期的HCC及良性组织,并可能有效地进行预后判断。
文摘BACKGROUND SMARCB1/INI1-deficient pancreatic undifferentiated rhabdoid carcinoma is a very aggressive tumor that is rarely reported in the literature.The tumor has a predominant rhabdoid cell component and different patterns of growth have been reported.CASE SUMMARY A 59-year-old woman presented with diffuse abdominal pain,increasing in severity and accompanied by weight loss,nausea,and vomiting.Imaging showed a pancreatic head mass.Fine needle aspiration demonstrated atypical epithelioid cells with a pseudopapillary growth pattern suggestive of solid pseudopapillary neoplasm.The excised neoplasm showed monotonous epithelioid and focally spindle cells with pseudopapillary structures,rhabdoid features,and loss of SMARCB1 protein expression with wild-type KRAS,consistent with a SMARCB1/INI1-deficient undifferentiated rhabdoid carcinoma.The patient’s condition deteriorated rapidly following surgery and she expired 3 mo post operation.CONCLUSION In this article,we report the first case of SMARCB1/INI1-deficient undifferentiated pancreatic rhabdoid carcinoma mimicking solid pseudopapillary neoplasm.
文摘BACKGROUND SMARCB1/INI-1 deficient sinonasal carcinoma(SDSC)is a rare subset of sinonasal undifferentiated carcinoma with a poor prognosis.Here,we present two case reports of SDSC patients.We also review the literature on this tumor.This is the first published report of SDSC treatment with immunotherapy.CASE SUMMARY Here we present two patient cases of SDSC in which initial consultation and diagnosis were complicated but SDSC was ultimately diagnosed.One patient received a traditional treatment of surgery and adjuvant chemoradiotherapy,while the other patient received additional immunotherapy;the prognoses of these two patients differed.We review previous diagnostic literature reports and SDSC treatments and provide a unique perspective on this rare type of tumor.CONCLUSION SDSC is a rare,diagnostically challenging carcinoma with a consistently poor prognosis,early distant metastases,and frequent recurrence.Timely diagnosis and intervention are critical for treatment,for which the standard of care is surgery followed by adjuvant chemoradiotherapy,though immunotherapy may be an effective new treatment for SDSC.
