Primary Hepatoid Adenocarcinoma of Gallbladder With MB21D2/GALNT12/ARID2 Mutations: A Case Report

Background Primary 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 Summary A 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. Conclusion This 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.

[1]  A. Chiang,et al.  Overexpression of wild type or a Q311E mutant MB21D2 promotes a pro‐oncogenic phenotype in HNSCC , 2020, Molecular oncology.

[2]  P. Tiwari.  Epigenetic Biomarkers in Gallbladder Cancer. , 2020, Trends in cancer.

[3]  Lin Qiu,et al.  Chromatin remodeling factor ARID2 suppresses hepatocellular carcinoma metastasis via DNMT1-Snail axis , 2020, Proceedings of the National Academy of Sciences.

[4]  Weilin Wang,et al.  An alpha-fetoprotein-negative hepatoid adenocarcinoma of the gallbladder with squamous differentiation. , 2020, Hepatobiliary surgery and nutrition.

[5]  O. Nunez Lopez,et al.  Pulmonary hepatoid adenocarcinoma. , 2019, The Journal of thoracic and cardiovascular surgery.

[6]  L. Shen,et al.  Hepatoid adenocarcinoma of the stomach: a unique subgroup with distinct clinicopathological and molecular features , 2019, Gastric Cancer.

[7]  T. Osada,et al.  Hepatoid Adenocarcinoma With Enteroblastic Differentiation in the Sigmoid Colon: Lessons From a Rare Case. , 2019, The American journal of gastroenterology.

[8]  Jia-xin Yang,et al.  Genomic Comparison of Endometrioid Endometrial Carcinoma and Its Precancerous Lesions in Chinese Patients by High-Depth Next Generation Sequencing , 2019, Front. Oncol..

[9]  J. Lai,et al.  Liver Metastasis of Hepatoid Colonic Adenocarcinoma: A Rare and Unusual Entity With Poor Prognosis and Review of the Literature , 2018, Gastroenterology research.

[10]  Manal M. Hassan,et al.  Genetic landscape of gallbladder cancer: Global overview. , 2018, Mutation research.

[11]  M. Woods,et al.  Evidence for GALNT12 as a moderate penetrance gene for colorectal cancer , 2018, Human mutation.

[12]  S. Murata,et al.  HER2 is frequently overexpressed in hepatoid adenocarcinoma and gastric carcinoma with enteroblastic differentiation: a comparison of 35 cases to 334 gastric carcinomas of other histological types , 2018, Journal of Clinical Pathology.

[13]  Y. Pomyen,et al.  Common Molecular Subtypes Among Asian Hepatocellular Carcinoma and Cholangiocarcinoma. , 2017, Cancer cell.

[14]  Masahiko Miura,et al.  ARID2 modulates DNA damage response in human hepatocellular carcinoma cells. , 2017, Journal of hepatology.

[15]  Chandra Sekhar Pedamallu,et al.  Distinct patterns of somatic genome alterations in lung adenocarcinomas and squamous cell carcinomas , 2016, Nature Genetics.

[16]  H. Johnsen,et al.  Inherited Inflammatory Response Genes Are Associated with B-Cell Non-Hodgkin’s Lymphoma Risk and Survival , 2015, PloS one.

[17]  J. Zucman‐Rossi,et al.  Genetic Landscape and Biomarkers of Hepatocellular Carcinoma. , 2015, Gastroenterology.

[18]  W. Lu,et al.  Whole-exome and targeted gene sequencing of gallbladder carcinoma identifies recurrent mutations in the ErbB pathway , 2014, Nature Genetics.

[19]  M. Bousamra,et al.  Hepatoid adenocarcinoma of the lung: report of five cases and review of the literature , 2014, Modern Pathology.

[20]  Chun-Ying Wu,et al.  Clinicopathological characteristics in the differential diagnosis of hepatoid adenocarcinoma: a literature review. , 2013, World journal of gastroenterology.

[21]  J. Cerhan,et al.  Inherited genetic variation and overall survival following follicular lymphoma , 2012, American journal of hematology.

[22]  H. S. Shukla,et al.  Genetic aberrations in gallbladder cancer. , 2012, Surgical oncology.

[23]  X. Miao,et al.  Expressive levels of MUC1 and MUC5AC and their clinicopathologic significances in the benign and malignant lesions of gallbladder , 2012, Journal of surgical oncology.

[24]  S. Ellouze,et al.  Hepatoid adenocarcinoma of the gallbladder , 2011, World journal of surgical oncology.

[25]  K. Kato,et al.  Primary hepatoid adenocarcinoma of the uterine cervix , 2006, International Journal of Gynecologic Cancer.

[26]  H. Sasano,et al.  Hepatoid adenocarcinoma of the gallbladder: Case report and review of the literature , 2004, Pathology international.

[27]  L. Terracciano,et al.  Hepatoid Adenocarcinoma With Liver Metastasis Mimicking Hepatocellular Carcinoma: An Immunohistochemical and Molecular Study of Eight Cases , 2003, The American journal of surgical pathology.

[28]  R. Montironi,et al.  Hepatoid adenocarcinoma of the urinary bladder , 2003, Virchows Archiv.

[29]  J. Albores–Saavedra,et al.  Clear cell carcinomas of the gallbladder and extrahepatic bile ducts. , 1995, The American journal of surgical pathology.

[30]  H. Ishikura,et al.  An AFP‐producing gastric carcinoma with features of hepatic differentiation. A case report , 1985, Cancer.