AUTHOR=Meng Xiangpeng , Ma Jia , Meng Nan , Yun Tianyu , Niu Beifang 

TITLE=Case Report: SMARCA4 (BRG1)-deficient undifferentiated carcinoma of gallbladder with genetic analysis

JOURNAL=Frontiers in Oncology

VOLUME=13

YEAR=2023

URL=https://www.frontiersin.org/journals/oncology/articles/10.3389/fonc.2023.1086266

DOI=10.3389/fonc.2023.1086266

ISSN=2234-943X

ABSTRACT=<p><italic>SMARCA4 (BRG1)</italic>-deficient undifferentiated carcinoma is a rare and highly aggressive malignancy. It has been reported to occur in a multiple range of organs. However, to the best of our knowledge, <italic>SMARCA4 (BRG1)</italic>-deficient undifferentiated carcinoma of gallbladder has not yet been reported. Here, we describe a case of <italic>SMARCA4 (BRG1)</italic>-deficient undifferentiated carcinoma of gallbladder. Through comprehensive genetic analysis, we hypothesized that in addition to <italic>SMARCA4 (BRG1)</italic> deficiency, other genetic changes might also be involved in the tumorigenesis of undifferentiated gallbladder cancer in this patient, particularly somatic mutations in the <italic>CTNNB1, KRAS, PIK3CA, TP53, CREBBP</italic>, and <italic>FANCI</italic> genes. To the best of our knowledge, this is the first report of <italic>SMARCA4 (BRG1)</italic>-deficient undifferentiated carcinoma of gallbladder with genetic analysis.</p>