Primary Hepatoid Adenocarcinoma of Gallbladder With MB21D2/GALNT12/ARID2 Mutations: A Case Report
BackgroundPrimary hepatoid adenocarcinoma of the gallbladder is a relatively rare type of extrahepatic adenocarcinoma. The genetic changes involved in this type of adenocarcinoma were unexplained so far. We reported a rare case of primary hepatoid adenocarcinoma of gallbladder with Mab-21 domain con...
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Frontiers Media S.A.
2022-01-01
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| Series: | Frontiers in Endocrinology |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fendo.2021.791153/full |
| _version_ | 1819173775575351296 |
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| author | Zhenyu Li Qingming Jiang Xinyu Chen Yu Xiao Jue Xiao |
| author_facet | Zhenyu Li Qingming Jiang Xinyu Chen Yu Xiao Jue Xiao |
| author_sort | Zhenyu Li |
| collection | DOAJ |
| description | BackgroundPrimary hepatoid adenocarcinoma of the gallbladder is a relatively rare type of extrahepatic adenocarcinoma. The genetic changes involved in this type of adenocarcinoma were unexplained so far. We reported a rare case of primary hepatoid adenocarcinoma of gallbladder with Mab-21 domain containing 2 (MB21D2), polypeptide N-acetylgalactosaminyltransferase 12 (GALNT12), and AT-rich interaction domain 2 (ARID2) mutations, which was confirmed after surgical resection pathologically.Case SummaryA 69-year-old female with distention of hypogastrium and constipation received enema treatment, but ineffectively. No abnormalities were found on relevant physical examination. Then, the CT and MRI demonstrated a 3.3–4-cm soft tissue mass shadow in the neck of the gallbladder. The primary lesions consisted of two components: high-grade intraepithelial neoplasia of glands and hepatoid glands microscopically after laparoscope cholecystectomy. Immunohistochemical staining showed the sameness and difference of the two areas. Furthermore, tumor mutational burden (TMB) shows that the MB21D2, GALNT12, and ARID2 genes were mutated.ConclusionThis is the first report of primary hepatoid adenocarcinoma of the gallbladder with MB21D2, GALNT12, and ARID2 mutations. This will provide a theoretical basis for genetic changes in rare tumors. |
| first_indexed | 2024-12-22T20:28:26Z |
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| issn | 1664-2392 |
| language | English |
| last_indexed | 2024-12-22T20:28:26Z |
| publishDate | 2022-01-01 |
| publisher | Frontiers Media S.A. |
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| series | Frontiers in Endocrinology |
| spelling | doaj.art-f581ad42ba8d48df9db7f78e0af7d05c2022-12-21T18:13:40ZengFrontiers Media S.A.Frontiers in Endocrinology1664-23922022-01-011210.3389/fendo.2021.791153791153Primary Hepatoid Adenocarcinoma of Gallbladder With MB21D2/GALNT12/ARID2 Mutations: A Case ReportZhenyu Li0Qingming Jiang1Xinyu Chen2Yu Xiao3Jue Xiao4Department of Pathology, Chongqing University Cancer Hospital, Chongqing, ChinaDepartment of Pathology, Chongqing University Cancer Hospital, Chongqing, ChinaDepartment of Pathology, Chongqing University Cancer Hospital, Chongqing, ChinaDepartment of Pathology, Liangping People’s Hospital, Chongqing, ChinaDepartment of Pathology, Chongqing University Cancer Hospital, Chongqing, ChinaBackgroundPrimary hepatoid adenocarcinoma of the gallbladder is a relatively rare type of extrahepatic adenocarcinoma. The genetic changes involved in this type of adenocarcinoma were unexplained so far. We reported a rare case of primary hepatoid adenocarcinoma of gallbladder with Mab-21 domain containing 2 (MB21D2), polypeptide N-acetylgalactosaminyltransferase 12 (GALNT12), and AT-rich interaction domain 2 (ARID2) mutations, which was confirmed after surgical resection pathologically.Case SummaryA 69-year-old female with distention of hypogastrium and constipation received enema treatment, but ineffectively. No abnormalities were found on relevant physical examination. Then, the CT and MRI demonstrated a 3.3–4-cm soft tissue mass shadow in the neck of the gallbladder. The primary lesions consisted of two components: high-grade intraepithelial neoplasia of glands and hepatoid glands microscopically after laparoscope cholecystectomy. Immunohistochemical staining showed the sameness and difference of the two areas. Furthermore, tumor mutational burden (TMB) shows that the MB21D2, GALNT12, and ARID2 genes were mutated.ConclusionThis is the first report of primary hepatoid adenocarcinoma of the gallbladder with MB21D2, GALNT12, and ARID2 mutations. This will provide a theoretical basis for genetic changes in rare tumors.https://www.frontiersin.org/articles/10.3389/fendo.2021.791153/fullhepatoid adenocarcinomagallbladderTMBcase reportimmunocytochemistry |
| spellingShingle | Zhenyu Li Qingming Jiang Xinyu Chen Yu Xiao Jue Xiao Primary Hepatoid Adenocarcinoma of Gallbladder With MB21D2/GALNT12/ARID2 Mutations: A Case Report Frontiers in Endocrinology hepatoid adenocarcinoma gallbladder TMB case report immunocytochemistry |
| title | Primary Hepatoid Adenocarcinoma of Gallbladder With MB21D2/GALNT12/ARID2 Mutations: A Case Report |
| title_full | Primary Hepatoid Adenocarcinoma of Gallbladder With MB21D2/GALNT12/ARID2 Mutations: A Case Report |
| title_fullStr | Primary Hepatoid Adenocarcinoma of Gallbladder With MB21D2/GALNT12/ARID2 Mutations: A Case Report |
| title_full_unstemmed | Primary Hepatoid Adenocarcinoma of Gallbladder With MB21D2/GALNT12/ARID2 Mutations: A Case Report |
| title_short | Primary Hepatoid Adenocarcinoma of Gallbladder With MB21D2/GALNT12/ARID2 Mutations: A Case Report |
| title_sort | primary hepatoid adenocarcinoma of gallbladder with mb21d2 galnt12 arid2 mutations a case report |
| topic | hepatoid adenocarcinoma gallbladder TMB case report immunocytochemistry |
| url | https://www.frontiersin.org/articles/10.3389/fendo.2021.791153/full |
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