临床与实验病理学杂志2026，Vol.42Issue(4)：478-482,5.DOI:10.13315/j.cnki.cjcep.2026.04.009
SMARCA4缺失性肺腺癌25例临床病理特征分析
Analysis of clinicopathological characteristics of 25 cases of SMARCA4-deficient lung adenocarcinoma
摘要
Abstract
Objective To investigate the clinicopathological and molecular genetic characteristics of SMARCA4-deficient lung adenocarcinoma.Methods A total of 25 cases were collected.Histological examination,immunohisto-chemical staining,and follow-up analysis were performed.Among them,4 cases with clear cell morphology and 1 case with partial loss of both BRG1 and INI1 were selected for next-generation sequencing(NGS).Results The co-hort was predominantly male(23/25),with an age range of 42-70 years(median:60 years).Histologically,the tu-mors mainly exhibited solid growth patterns,with focal areas showing complex glandular,cribriform,and micropapil-lary architectures.Tumor cells demonstrated moderate to severe nuclear atypia and pathological mitotic figures were observed.Immunohistochemically,CK7 was positive in 21/25 cases,TTF-1 in 11/25,and Napsin A in 9/25.All cases showed diffuse membranous positivity for CKpan,while p40 and SALL4 were negative in all cases.BRG1 ex-pression was completely lost in 88.0%(22/25)of cases and partially lost in 12.0%(3/25).INI1 expression was re-tained in 84.0%(21/25)of cases,while concurrent partial loss of BRG1 and INI1 was observed in 16.0%(4/25).NGS identified SMARCA4 mutations in 4 cases(one deletion mutation and three point mutations),including 1 case with a coexisting ARID1A mutation and one with a concurrent SMARCA2 mutation.Other mutations included KRAS(2/5),TP53(3/5),EGFR(1/5),and RB1(1/5).All 5 sequenced cases were microsatellite stable.Follow-up data were available for 20 patients,with a median follow-up period of 18-140 months.Among them,5 died,13 experi-enced disease progression,and 2 remained alive with stable disease.Conclusion SMARCA4-deficient lung adeno-carcinoma exhibits diverse histological features and frequently expresses CK7.Routine BRG1 immunohistochemical testing is recommended in poorly differentiated lung adenocarcinomas to improve prognostic assessment and guide treat-ment strategies.关键词
肺肿瘤/腺癌/SMARCA4/突变/预后Key words
lung neoplasms/adenocarcinoma/SMARCA4/mutation/prognosis分类
医药卫生引用本文复制引用
丁洁蓉,李学广,王璇,夏秋媛,王小桐,汪小霞,方茹,饶秋..SMARCA4缺失性肺腺癌25例临床病理特征分析[J].临床与实验病理学杂志,2026,42(4):478-482,5.基金项目
国家自然科学基金(82273327)、江苏省自然科学基金青年项目(BK20230193)、江苏省卫健委面上项目(M2021052) National Nature Science Foundation of China(82273327) （82273327）
The Science Foundation for Distin-guished Young Scholars of Jiangsu(BK20230193) （BK20230193）
Jiangsu Provincial Health Commission General Project(M2021052) （M2021052）
