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

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.

Automated summary

SMARCA4 (BRG1)-deficient undifferentiated carcinoma is a rare and aggressive malignancy that can occur in various organs. This is the first reported case of SMARCA4 (BRG1)-deficient undifferentiated carcinoma of the gallbladder, with comprehensive genetic analysis suggesting additional genetic changes involved in tumorigenesis. Somatic mutations in CTNNB1, KRAS, PIK3CA, TP53, CREBBP, and FANCI genes were identified.