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第45卷第12期 南京医科大学学报（自然科学版）
2025年12月 Journal of Nanjing Medical University（Natural Sciences） ·1775 ·
·临床研究·
消化系统SWI/SNF复合物缺失性癌31例临床病理学分析
卓帅帅，方海生，龚予希，陈 刚，白茹梦，张智弘 *
南京医科大学第一附属医院病理学部，江苏 南京 210029
［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。
［关键词］ 消化系统肿瘤；SWI/SNF复合物；临床病理学特征；KRAS突变
［中图分类号］ R735 ［文献标志码］ A ［文章编号］ 1007⁃4368（2025）12⁃1775⁃09
doi：10.7655/NYDXBNSN251073
Clinicopathological analysis of 31 cases of SWI/SNF complex deficient carcinoma in
digestive system
*
ZHUO Shuaishuai，FANG Haisheng，GONG Yuxi，CHEN Gang，BAI Rumeng，ZHANG Zhihong
Department of Pathology，the First Affiliated Hospital of Nanjing Medical University，Nanjing 210029，China
［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
［基金项目］ 南京医科大学第一附属医院青年基金培育计划（PY2023058）
通信作者（Corresponding author），E⁃mail：zhangzh@njmu.edu.cn（ORCID：0000⁃0002⁃5779⁃9365）
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