消化系统SWI/SNF复合物缺失性癌31例临床病理学分析
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南京医科大学第一附属医院病理学部,江苏 南京 210029

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R735

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南京医科大学第一附属医院青年基金培育计划(PY2023058)


Clinicopathological analysis of 31 cases of SWI/SNF complex deficient carcinoma in digestive system
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Department of Pathology,the First Affiliated Hospital of Nanjing Medical University,Nanjing 210029 ,China

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    摘要:

    目的:探讨消化系统酵母交配型转换/蔗糖不发酵(switch/sucrose non-fermentable complex,SWI/SNF)染色质重塑复合物缺失性癌的临床病理学特征、免疫表型、分子遗传学改变特点,并分析其诊断及鉴别诊断要点。方法:收集31例消化系统 SWI/SNF复合物缺失性癌患者的临床资料,观察其组织学形态,总结免疫组织化学结果和分子改变特点,并复习相关文献进行分析。结果:31例患者中,男19例,女12例,年龄43~80岁,中位年龄66岁。病灶位于食管下段(胃食管交界处)1例,胃7例, 右半结肠3例,胰腺18例,肝胰壶腹部2例。病灶最大径1.5~18.0 cm(中位数3.5 cm)。组织学上,15例肿瘤呈未分化癌形态, 16例为低到中分化胰腺导管腺癌、腺鳞癌或导管内乳头状黏液性肿瘤(intraductal papillary mucinous neoplasm,IPMN)伴相关浸润性癌。免疫表型上,15例未分化癌中14例显示BRG1失表达,1例胰腺未分化癌出现INI1部分缺失性表达,而BRG1保留表达;4例肿瘤细胞CK-pan表达阴性或仅散在表达,其他上皮性标志物仅见个别肿瘤细胞阳性或多为阴性;7例部分肿瘤细胞 Syn表达弱到中等阳性,其中2例分别见散在的CD56或INSM1弱阳性,CgA全部为阴性。16例胰腺/壶腹部癌BRG1保留表达, 8例INI1部分失表达或表达减弱,8例保留表达;分子病理显示,14例出现了SMARCB1基因突变,2例出现SMARCA4基因突变,所有病例均可见KRAS基因突变,14例出现TP53基因突变。结论:消化系统SWI/SNF复合物缺失性癌部分为未分化癌,没有特定的分化特征,胃肠道外SWI/SNF复合物缺失性癌可能更多出现不同分化程度的腺癌形态,提示行BRG1和INI1等SWI/ SNF蛋白检测可减少漏诊和误诊。胰腺癌中SWI/SNF相关基因突变与KRAS和TP53基因突变具有相关性。

    Abstract:

    Objective:To investigate the clinicopathological features,immunophenotype,and molecular genetic changes of switch/ sucrose non - fermentable complex(SWI/SNF)complex deficient carcinoma in digestive system,and to analyze the diagnosis and differential diagnosis points. Methods:The clinical data of 31 patients with SWI/SNF complex deficient carcinoma of digestive system were collected. The histological morphology was observed,and the immunohistochemical results and molecular alteration characteristics were summarized. Relevant literature was reviewed for analysis. Results:Among the 31 patients,19 were male and 12 were female,aged from 43 to 80 years,with a median age of 66 years. Location of disease:lower esophagus(gastroesophageal junction) 1 case,stomach 7 cases,right colon 3 cases,pancreas 18 cases,ampulla 2 cases. The maximum diameter of the lesions ranged from 1.5 to 18.0 cm(median,3.5 cm). Histologically,15 tumors showed the morphology of undifferentiated carcinoma,and 16 were low - to moderately differentiated pancreatic ductal adenocarcinoma,adenosquamous carcinoma,or intraductal papillary mucinous neoplasm (IPMN)with associated invasive carcinoma. Immunophenotype:14 of the 15 undifferentiated carcinomas showed loss of BRG1 expression,and 1 pancreatic undifferentiated carcinoma showed partial loss of INI1 expression while retaining BRG1 expression;4 cases showed negative or only scattered expression of CK - pan in tumor cells,and other epithelial markers were positive in only individual tumor cells or mostly negative;7 cases showed weak to moderate positivity of Syn in some tumor cells,among which 2 cases showed scattered weak positivity of CD56 or INSM1 respectively,and all were negative for CgA. BRG1 expression was retained in 16 pancreatic/ampullary cancers,8 cases showed partial loss or reduced expression of INI1,and 8 cases retained expression;molecular pathology showed that 14 cases had SMARCB1 gene mutations,2 cases had SMARCA4 gene mutations,KRAS gene mutations were seen in all cases,and 14 cases had TP53 gene mutations. Conclusion:Some SWI/SNF complex deficient carcinomas in the digestive system are undifferentiated carcinomas without specific differentiation characteristics. Extragastrointestinal SWI/SNF complex deficient carcinoma may have more differentiated adenocarcinoma morphology. Detection of SWI/SNF proteins such as BRG1 and INI1 is recommended to reduce missed diagnosis and misdiagnoses. SWI/SNF - related gene mutations in pancreatic cancer are correlated with KRAS and TP53 gene mutations.

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卓帅帅,方海生,龚予希,陈刚,白茹梦,张智弘.消化系统SWI/SNF复合物缺失性癌31例临床病理学分析[J].南京医科大学学报(自然科学版),2025,45(12):1775-1783

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  • 收稿日期:2025-09-27
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  • 在线发布日期: 2025-12-13
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