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 d...

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Autores principales: Meng, Xiangpeng, Ma, Jia, Meng, Nan, Yun, Tianyu, Niu, Beifang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Oncology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10348478/
https://www.ncbi.nlm.nih.gov/pubmed/37456262
http://dx.doi.org/10.3389/fonc.2023.1086266
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author Meng, Xiangpeng
Ma, Jia
Meng, Nan
Yun, Tianyu
Niu, Beifang
author_facet Meng, Xiangpeng
Ma, Jia
Meng, Nan
Yun, Tianyu
Niu, Beifang
author_sort Meng, Xiangpeng
collection PubMed
description 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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spelling pubmed-103484782023-07-15 Case Report: SMARCA4 (BRG1)-deficient undifferentiated carcinoma of gallbladder with genetic analysis Meng, Xiangpeng Ma, Jia Meng, Nan Yun, Tianyu Niu, Beifang Front Oncol Oncology 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. Frontiers Media S.A. 2023-06-30 /pmc/articles/PMC10348478/ /pubmed/37456262 http://dx.doi.org/10.3389/fonc.2023.1086266 Text en Copyright © 2023 Meng, Ma, Meng, Yun and Niu https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Oncology
Meng, Xiangpeng
Ma, Jia
Meng, Nan
Yun, Tianyu
Niu, Beifang
Case Report: SMARCA4 (BRG1)-deficient undifferentiated carcinoma of gallbladder with genetic analysis
title Case Report: SMARCA4 (BRG1)-deficient undifferentiated carcinoma of gallbladder with genetic analysis
title_full Case Report: SMARCA4 (BRG1)-deficient undifferentiated carcinoma of gallbladder with genetic analysis
title_fullStr Case Report: SMARCA4 (BRG1)-deficient undifferentiated carcinoma of gallbladder with genetic analysis
title_full_unstemmed Case Report: SMARCA4 (BRG1)-deficient undifferentiated carcinoma of gallbladder with genetic analysis
title_short Case Report: SMARCA4 (BRG1)-deficient undifferentiated carcinoma of gallbladder with genetic analysis
title_sort case report: smarca4 (brg1)-deficient undifferentiated carcinoma of gallbladder with genetic analysis
topic Oncology
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10348478/
https://www.ncbi.nlm.nih.gov/pubmed/37456262
http://dx.doi.org/10.3389/fonc.2023.1086266
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