{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,1]],"date-time":"2026-05-01T14:21:52Z","timestamp":1777645312920,"version":"3.51.4"},"reference-count":21,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"5","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2020,9]]},"abstract":"The diagnosis of primary adenocarcinoma of the urinary bladder may be challenging in routine practice. These tumors may morphologically and immunohistochemically overlap with urachal adenocarcinoma and colorectal adenocarcinoma. Further, their genetic background is poorly understood. We systematically searched the PubMed database for results of complex genetic evaluation of primary bladder adenocarcinoma subtypes. Subsequently, we designed our own series of bladder lesions. We evaluated 36 cases: 16 primary enteric-type adenocarcinomas, 7 urachal enteric adenocarcinomas, 3 primary mucinous\/colloid adenocarcinomas, and 10 intestinal-type metaplasia\/villous adenoma. Detailed clinical data were collected, and all cases were examined using targeted next-generation sequencing. On the basis of the literature, the first mutated gene in these tumors was reported to beKRAS<\/jats:italic>in 11.3% of cases, followed byTERT<\/jats:italic>promoter mutations in 28.5%. In addition toKRAS<\/jats:italic>andTERT<\/jats:italic>, other genes were also found to be frequently mutated in primary bladder adenocarcinoma, includingTP53<\/jats:italic>,PIK3CA<\/jats:italic>,CTNNB1<\/jats:italic>,APC<\/jats:italic>,FBXW7<\/jats:italic>,IDH2<\/jats:italic>, andRB1<\/jats:italic>. In our series, the most frequent gene mutations in primary enteric-type adenocarcinomas were as follows:TP53<\/jats:italic>(56%);BRCA2<\/jats:italic>,KMT2B<\/jats:italic>(both 33%);NOTCH2<\/jats:italic>,KDR<\/jats:italic>,ARID1B<\/jats:italic>,POLE<\/jats:italic>,PTEN<\/jats:italic>,KRAS<\/jats:italic>(all 28%); in urachal enteric adenocarcinoma they were as follows:TP53<\/jats:italic>(86%);PTEN<\/jats:italic>,NOTCH<\/jats:italic>(both 43%); in primary mucinous\/colloid adenocarcinomas they were as follows:KRAS<\/jats:italic>,GRIN2A<\/jats:italic>,AURKB<\/jats:italic>(all 67%); and, in intestinal-type metaplasia\/villous adenoma, they were as follows:APC<\/jats:italic>,PRKDC<\/jats:italic>(both 60%);ROS1<\/jats:italic>,ATM<\/jats:italic>,KMT2D<\/jats:italic>(all 50%). No specific mutational pattern was identified using cluster analysis for any of the groups. Herein, we describe the pathologic features and immunohistochemical staining patterns traditionally used in the differential diagnoses of glandular lesions of the bladder in routine surgical pathology. We outline the mutational landscape of these lesions as an aggregate of published data with additional data from our cohort. Although diagnostically not discriminatory, we document that the most common genetic alterations shared between these glandular neoplasms includeTP53<\/jats:italic>,APC<\/jats:italic>(in the Wnt pathway), andKRAS<\/jats:italic>(in the MAPK pathway) mutations.<\/jats:p>","DOI":"10.1097\/pap.0000000000000268","type":"journal-article","created":{"date-parts":[[2020,6,10]],"date-time":"2020-06-10T06:48:47Z","timestamp":1591771727000},"page":"303-310","source":"Crossref","is-referenced-by-count":21,"title":["Molecular Genetic Features of Primary Nonurachal Enteric-type Adenocarcinoma, Urachal Adenocarcinoma, Mucinous Adenocarcinoma, and Intestinal Metaplasia\/Adenoma: Review of the Literature and Next-generation Sequencing Study"],"prefix":"10.1097","volume":"27","author":[{"given":"Ana S.","family":"Pires-Luis","sequence":"first","affiliation":[{"name":"Department of Pathology, Centro Hospitalar de Vila Nova de Gaia-Espinho, Vila Nova de Gaia"},{"name":"Cancer Biology and Epigenetics Group (CBEG), IPO Porto Research Center (CI-IPOP), Portuguese Oncology Institute of Porto (IPO Porto) & Porto Comprehensive Cancer Center (P.CCC)"},{"name":"Microscopy"}]},{"given":"Petr","family":"Martinek","sequence":"additional","affiliation":[{"name":"Pathology"}]},{"given":"Reza","family":"Alaghehbandan","sequence":"additional","affiliation":[{"name":"Department of Pathology, Faculty of Medicine, University of British Columbia, Royal Columbian Hospital, Vancouver, BC"}]},{"given":"Kiril","family":"Trpkov","sequence":"additional","affiliation":[{"name":"Department of Pathology, University of Calgary and Calgary Laboratory Services, Calgary, AB, Canada"}]},{"given":"Eva M.","family":"Comperat","sequence":"additional","affiliation":[{"name":"Department of Pathology, Sorbonne Universit\u00e9, Service d\u2019Anatomie et Cytologie Pathologiques, H\u00f4pital Tenon, Paris, France"}]},{"given":"Delia M.","family":"Perez Montiel","sequence":"additional","affiliation":[{"name":"Department of Pathology, Institute Nacional de Cancerologia, INCAN, Mexico City, Mexico"}]},{"given":"Stela","family":"Bulimbasic","sequence":"additional","affiliation":[{"name":"Department of Pathology, School of Medicine, Zagreb, Croatia"}]},{"given":"Jo\u00e3o","family":"Lobo","sequence":"additional","affiliation":[{"name":"Cancer Biology and Epigenetics Group (CBEG), IPO Porto Research Center (CI-IPOP), Portuguese Oncology Institute of Porto (IPO Porto) & Porto Comprehensive Cancer Center (P.CCC)"},{"name":"Department of Pathology, Portuguese Oncology Institute of Porto (IPOP)"},{"name":"Pathology and Molecular Immunology, Institute of Biomedical Sciences Abel Salazar, University of Porto (ICBAS-UP)"}]},{"given":"Rui","family":"Henrique","sequence":"additional","affiliation":[{"name":"Cancer Biology and Epigenetics Group (CBEG), IPO Porto Research Center (CI-IPOP), Portuguese Oncology Institute of Porto (IPO Porto) & Porto Comprehensive Cancer Center (P.CCC)"},{"name":"Department of Pathology, Portuguese Oncology Institute of Porto (IPOP)"},{"name":"Pathology and Molecular Immunology, Institute of Biomedical Sciences Abel Salazar, University of Porto (ICBAS-UP)"}]},{"given":"Tomas","family":"Vanecek","sequence":"additional","affiliation":[{"name":"Pathology"}]},{"given":"Kristyna","family":"Pivovarcikova","sequence":"additional","affiliation":[{"name":"Pathology"}]},{"given":"Kvetoslava","family":"Michalova","sequence":"additional","affiliation":[{"name":"Pathology"}]},{"given":"Tomas","family":"Pitra","sequence":"additional","affiliation":[{"name":"Urology, Charles University in Prague, Faculty of Medicine in Plze\u0148, Plze\u0148, Czech Republic"}]},{"given":"Milan","family":"Hora","sequence":"additional","affiliation":[{"name":"Urology, Charles University in Prague, Faculty of Medicine in Plze\u0148, Plze\u0148, Czech Republic"}]},{"given":"Ana","family":"Marques","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, University of Porto"},{"name":"Department of Pathology, Centro Hospitalar e Universit\u00e1rio de S\u00e3o Jo\u00e3o, Porto, Portugal"}]},{"given":"Jose M.","family":"Lopes","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, University of Porto"},{"name":"Department of Pathology, Centro Hospitalar e Universit\u00e1rio de S\u00e3o Jo\u00e3o, Porto, Portugal"}]},{"given":"Joanna","family":"Rogala","sequence":"additional","affiliation":[{"name":"Pathology"}]},{"given":"Jana","family":"Mareckova","sequence":"additional","affiliation":[{"name":"Pathology"}]},{"given":"Michal","family":"Michal","sequence":"additional","affiliation":[{"name":"Pathology"}]},{"given":"Ondrej","family":"Hes","sequence":"additional","affiliation":[{"name":"Pathology"}]}],"member":"276","published-online":{"date-parts":[[2020,6,5]]},"reference":[{"key":"R1-20230921","doi-asserted-by":"crossref","first-page":"811","DOI":"10.1111\/j.1365-2559.2010.03651.x","article-title":"Glandular lesions of the urinary 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