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

被引：3
作者：
Meng, Xiangpeng [1 ]
Ma, Jia [2 ]
Meng, Nan [3 ]
Yun, Tianyu [3 ]
Niu, Beifang [3 ,4 ,5 ]
机构：
[1] China Med Univ, Pancreat Endocrinol Ward, Dept Gen Surg, Shengjing Hosp, Shenyang, Peoples R China
[2] China Med Univ, Affiliated Hosp 4, Dept Gastroenterol, Shenyang, Peoples R China
[3] Beijing ChosenMed Clin Lab Co Ltd, Beijing, Peoples R China
[4] Chinese Acad Sci, Comp Network Informat Ctr, Beijing, Peoples R China
[5] Univ Chinese Acad Sci, Beijing, Peoples R China
来源：
FRONTIERS IN ONCOLOGY | 2023年 / 13卷
关键词：
SMARCA4; BRG1; SWI; SNF; gallbladder carcinoma; case report; SMALL-CELL CARCINOMA; SWI/SNF COMPLEX; FANCONI-ANEMIA; PIK3CA MUTATIONS; CANCER; EXPRESSION; OVARY; INHIBITION; RISK; GAIN;
D O I：
10.3389/fonc.2023.1086266
中图分类号：
R73 [肿瘤学];
学科分类号：
100214 ;
摘要：
SMARCA4 (BRG1)-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, SMARCA4 (BRG1)-deficient undifferentiated carcinoma of gallbladder has not yet been reported. Here, we describe a case of SMARCA4 (BRG1)-deficient undifferentiated carcinoma of gallbladder. Through comprehensive genetic analysis, we hypothesized that in addition to SMARCA4 (BRG1) deficiency, other genetic changes might also be involved in the tumorigenesis of undifferentiated gallbladder cancer in this patient, particularly somatic mutations in the CTNNB1, KRAS, PIK3CA, TP53, CREBBP, and FANCI genes. To the best of our knowledge, this is the first report of SMARCA4 (BRG1)-deficient undifferentiated carcinoma of gallbladder with genetic analysis.
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页数：7
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