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病例报告:伴有基因分析的SMARCA4(BRG1)缺陷型胆囊未分化癌

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

作者信息

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

机构信息

Pancreatic Endocrinology Ward, Department of General Surgery, Shengjing Hospital of China Medical University, Shenyang, China.

Department of Gastroenterology, The Fourth Affiliated Hospital of China Medical University, Shenyang, China.

出版信息

Front Oncol. 2023 Jun 30;13:1086266. doi: 10.3389/fonc.2023.1086266. eCollection 2023.

Abstract

-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, -deficient undifferentiated carcinoma of gallbladder has not yet been reported. Here, we describe a case of -deficient undifferentiated carcinoma of gallbladder. Through comprehensive genetic analysis, we hypothesized that in addition to deficiency, other genetic changes might also be involved in the tumorigenesis of undifferentiated gallbladder cancer in this patient, particularly somatic mutations in the , and genes. To the best of our knowledge, this is the first report of -deficient undifferentiated carcinoma of gallbladder with genetic analysis.

摘要
  • 缺陷型未分化癌是一种罕见且侵袭性很强的恶性肿瘤。据报道,它可发生于多种器官。然而,据我们所知,胆囊的- 缺陷型未分化癌尚未见报道。在此,我们描述一例胆囊- 缺陷型未分化癌病例。通过全面的基因分析,我们推测,除了缺陷外,其他基因改变可能也参与了该患者未分化胆囊癌的肿瘤发生过程,特别是、和基因中的体细胞突变。据我们所知,这是首例对胆囊- 缺陷型未分化癌进行基因分析的报道。
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4619/10348478/cef4e2f989cf/fonc-13-1086266-g001.jpg

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