SMARCA4-Deficient Undifferentiated Gallbladder Cancer: A Case Report and Review of the Literature

Abstract

Nonsense mutations or inactivation of SMARCA4 (BRG1) are associated with the histological manifestations of many undifferentiated tumors in humans. However, the relationship between SMARCA4 mutations and undifferentiated gallbladder cancer needs to be further elucidated. SMARCA4-deficient undifferentiated gallbladder cancer is a rare and highly malignant tumor. We present a patient with SMARCA4-deficient undifferentiated gallbladder cancer with genetic testing of related genes that revealed mutations at 2 loci. There are currently very few reports related to this tumor worldwide, and protocols for diagnosis and treatment are limited. Therefore, we collected and analyzed clinical data from this patient, along with relevant literature, to create a comprehensive summary.