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
BACKGROUND Internal hernia(IH)is a rare culprit of small bowel obstruction(SBO)with an incidence of<1%.It poses a considerable diagnostic challenge requiring a high index of suspicion to prevent misdiagnosis,improp...BACKGROUND Internal hernia(IH)is a rare culprit of small bowel obstruction(SBO)with an incidence of<1%.It poses a considerable diagnostic challenge requiring a high index of suspicion to prevent misdiagnosis,improper treatment,and subsequent morbidity and mortality.AIM To determine the clinico-demographic profile,radiological and operative findings,and postoperative course of patients with IH and its association with SBO.METHODS Medical records of 586 patients with features of SBO presenting at a tertiary care centre at Lucknow,India between September 2010 and August 2023 were reviewed.RESULTS Out of 586 patients,7(1.2%)were diagnosed with IH.Among these,4 had congenital IH and 3 had acquired IH.The male-to-female ratio was 4:3.The median age at presentation was 32 years.Contrast-enhanced computed tomography(CECT)was the most reliable investigation for preoperative identification,demonstrating mesenteric whirling and clumped-up bowel loops.Left paraduodenal hernia and transmesenteric hernia occurred with an equal frequency(approximately 43%each).Intraoperatively,one patient was found to have bowel ischemia and one had associated malrotation of gut.During follow-up,no recurrences were reported.CONCLUSION IH,being a rare cause,must be considered as a differential diagnosis for SBO,especially in young patients in their 30s or with unexplained abdominal pain or discomfort post-surgery.A rapid imaging evaluation,preferably with CECT,is necessary to aid in an early diagnosis and prompt intervention,thereby reducing financial burden related to unnecessary investigations and preventing the morbidity and mortality associated with closed-loop obstruction and strangulation of the bowel.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BACKGROUND Internal hernia(IH)is a rare culprit of small bowel obstruction(SBO)with an incidence of<1%.It poses a considerable diagnostic challenge requiring a high index of suspicion to prevent misdiagnosis,improper treatment,and subsequent morbidity and mortality.AIM To determine the clinico-demographic profile,radiological and operative findings,and postoperative course of patients with IH and its association with SBO.METHODS Medical records of 586 patients with features of SBO presenting at a tertiary care centre at Lucknow,India between September 2010 and August 2023 were reviewed.RESULTS Out of 586 patients,7(1.2%)were diagnosed with IH.Among these,4 had congenital IH and 3 had acquired IH.The male-to-female ratio was 4:3.The median age at presentation was 32 years.Contrast-enhanced computed tomography(CECT)was the most reliable investigation for preoperative identification,demonstrating mesenteric whirling and clumped-up bowel loops.Left paraduodenal hernia and transmesenteric hernia occurred with an equal frequency(approximately 43%each).Intraoperatively,one patient was found to have bowel ischemia and one had associated malrotation of gut.During follow-up,no recurrences were reported.CONCLUSION IH,being a rare cause,must be considered as a differential diagnosis for SBO,especially in young patients in their 30s or with unexplained abdominal pain or discomfort post-surgery.A rapid imaging evaluation,preferably with CECT,is necessary to aid in an early diagnosis and prompt intervention,thereby reducing financial burden related to unnecessary investigations and preventing the morbidity and mortality associated with closed-loop obstruction and strangulation of the bowel.
