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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R735

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    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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ZHUO Shuaishuai, FANG Haisheng, GONG Yuxi, CHEN Gang, BAI Rumeng, ZHANG Zhihong. Clinicopathological analysis of 31 cases of SWI/SNF complex deficient carcinoma in digestive system[J].,2025,45(12):1775-1783.

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  • Received:September 27,2025
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  • Online: December 13,2025
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