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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| Format: | Article |
| Language: | English |
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Frontiers Media S.A.
2023-06-01
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| Series: | Frontiers in Oncology |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fonc.2023.1086266/full |
| _version_ | 1827912377589301248 |
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| author | Xiangpeng Meng Jia Ma Nan Meng Tianyu Yun Beifang Niu Beifang Niu Beifang Niu |
| author_facet | Xiangpeng Meng Jia Ma Nan Meng Tianyu Yun Beifang Niu Beifang Niu Beifang Niu |
| author_sort | Xiangpeng Meng |
| collection | DOAJ |
| 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. |
| first_indexed | 2024-03-13T02:14:59Z |
| format | Article |
| id | doaj.art-6ee697ec167a4f18b8e56b871451c3c7 |
| institution | Directory Open Access Journal |
| issn | 2234-943X |
| language | English |
| last_indexed | 2024-03-13T02:14:59Z |
| publishDate | 2023-06-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Oncology |
| spelling | doaj.art-6ee697ec167a4f18b8e56b871451c3c72023-06-30T16:09:13ZengFrontiers Media S.A.Frontiers in Oncology2234-943X2023-06-011310.3389/fonc.2023.10862661086266Case Report: SMARCA4 (BRG1)-deficient undifferentiated carcinoma of gallbladder with genetic analysisXiangpeng Meng0Jia Ma1Nan Meng2Tianyu Yun3Beifang Niu4Beifang Niu5Beifang Niu6Pancreatic Endocrinology Ward, Department of General Surgery, Shengjing Hospital of China Medical University, Shenyang, ChinaDepartment of Gastroenterology, The Fourth Affiliated Hospital of China Medical University, Shenyang, ChinaBeijing ChosenMed Clinical Laboratory Co. Ltd., Beijing, ChinaBeijing ChosenMed Clinical Laboratory Co. Ltd., Beijing, ChinaBeijing ChosenMed Clinical Laboratory Co. Ltd., Beijing, ChinaComputer Network Information Center, Chinese Academy of Sciences, Beijing, ChinaUniversity of the Chinese Academy of Sciences, Beijing, ChinaSMARCA4 (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.https://www.frontiersin.org/articles/10.3389/fonc.2023.1086266/fullSMARCA4BRG1SWI/SNFgallbladder carcinomacase report |
| spellingShingle | Xiangpeng Meng Jia Ma Nan Meng Tianyu Yun Beifang Niu Beifang Niu Beifang Niu Case Report: SMARCA4 (BRG1)-deficient undifferentiated carcinoma of gallbladder with genetic analysis Frontiers in Oncology SMARCA4 BRG1 SWI/SNF gallbladder carcinoma case report |
| 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 | SMARCA4 BRG1 SWI/SNF gallbladder carcinoma case report |
| url | https://www.frontiersin.org/articles/10.3389/fonc.2023.1086266/full |
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