{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,1]],"date-time":"2026-04-01T01:08:44Z","timestamp":1775005724833,"version":"3.50.1"},"reference-count":47,"publisher":"BMJ","issue":"11","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["J Clin Pathol"],"accepted":{"date-parts":[[2019,6,10]]},"published-print":{"date-parts":[[2019,11]]},"abstract":"<jats:sec>\n                    <jats:title>Aims<\/jats:title>\n                    <jats:p>Knowledge regarding the genetic features of ampullary carcinoma (AC) in European patients is limited. The utility of tumour markers for the establishment of a malignant diagnosis in biopsies from the ampullary region has not been fully elucidated. We aimed to describe the clinical, pathological, immunohistochemical (IHC) and genetic features of a Danish series of surgically resected ACs.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>Surgically resected ACs (n=59) were examined regarding (1) clinicopathological features, (2) histological subtypes, (3) expression of IMP3, maspin, MUC5AC and S100P and (4) next-generation sequencing using a hybrid capture-based platform (Illumina HiSeq2500), including 315 cancer-related genes plus introns from 28 genes often rearranged or altered in cancer. Tumour mutational burden (TMB) and microsatellite instability (MSI) were also evaluated.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Pancreatobiliary adenocarcinomas (PB-AC), intestinal adenocarcinomas (INT-AC), other ampullary tumours and mixed adenocarcinomas represented 45.8%, 23.7%, 16.9% and 13.6%. The proportion of IHC-positive ACs (score \u22652) was: Maspin (94.9%), IMP3 (67.8%), S100P (39.0%) and MUC5AC (18.6%). Most frequently altered genes were\n                      <jats:italic>TP53<\/jats:italic>\n                      (59.3%),\n                      <jats:italic>KRAS<\/jats:italic>\n                      (40.7%),\n                      <jats:italic>APC<\/jats:italic>\n                      (27.8%),\n                      <jats:italic>SMAD4<\/jats:italic>\n                      (20.4%),\n                      <jats:italic>CDKN2A<\/jats:italic>\n                      (16.7%) and\n                      <jats:italic>ARID2<\/jats:italic>\n                      \/\n                      <jats:italic>PIK3CA<\/jats:italic>\n                      (each 11.1%). MUC5AC and S100P were frequently expressed in PB-AC,\n                      <jats:italic>APC<\/jats:italic>\n                      alterations frequent in INT-AC,\n                      <jats:italic>SOX9<\/jats:italic>\n                      alterations were exclusive in INT-AC and\n                      <jats:italic>MDM2<\/jats:italic>\n                      and\n                      <jats:italic>FRS2<\/jats:italic>\n                      alterations in PB-AC. Four of 49 ACs (8.2%) were TMB-high\/MSI-high and showed loss of MLH1 and PMS2.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>PB-AC was the most frequent histological subtype of AC. Maspin and IMP3 were the IHC tumour markers with the highest sensitivity. Adenocarcinoma subtypes differed regarding several genetic alterations, whose predictive value remains to be evaluated.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1136\/jclinpath-2019-205912","type":"journal-article","created":{"date-parts":[[2019,6,29]],"date-time":"2019-06-29T17:15:15Z","timestamp":1561828515000},"page":"762-770","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":17,"title":["Mutational profiling and immunohistochemical analysis of a surgical series of ampullary carcinomas"],"prefix":"10.1136","volume":"72","author":[{"given":"Mads Rohde","family":"Harthimmer","sequence":"first","affiliation":[{"name":"Department of Pathology, Odense University Hospital, Odense, Denmark"},{"name":"Department of Clinical Research, Faculty of Health Sciences, University of Southern Denmark, Odense, Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Uffe","family":"Stolborg","sequence":"additional","affiliation":[{"name":"Department of Pathology, Odense University Hospital, Odense, Denmark"},{"name":"Department of Pathology, Vejle Hospital, Vejle, Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Per","family":"Pfeiffer","sequence":"additional","affiliation":[{"name":"Department of Clinical Research, Faculty of Health Sciences, University of Southern Denmark, Odense, Denmark"},{"name":"Department of Oncology, Odense University Hospital, Odense, Denmark"},{"name":"Odense Pancreas Center (OPAC), Odense University Hospital, Odense, Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michael Bau","family":"Mortensen","sequence":"additional","affiliation":[{"name":"Department of Clinical Research, Faculty of Health Sciences, University of Southern Denmark, Odense, Denmark"},{"name":"Odense Pancreas Center (OPAC), Odense University Hospital, Odense, Denmark"},{"name":"Department of Surgery, Odense University Hospital, Odense, Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Claus","family":"Fristrup","sequence":"additional","affiliation":[{"name":"Odense Pancreas Center (OPAC), Odense University Hospital, Odense, Denmark"},{"name":"Department of Surgery, Odense University Hospital, Odense, Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9466-2333","authenticated-orcid":false,"given":"S\u00f6nke","family":"Detlefsen","sequence":"additional","affiliation":[{"name":"Department of Pathology, Odense University Hospital, Odense, Denmark"},{"name":"Department of Clinical Research, Faculty of Health Sciences, University of Southern Denmark, Odense, Denmark"},{"name":"Odense Pancreas Center (OPAC), Odense University Hospital, Odense, Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2019,6,29]]},"reference":[{"key":"2025112108510474000_72.11.762.1","doi-asserted-by":"crossref","first-page":"303","DOI":"10.1002\/jso.25336","article-title":"Incidence and comparative outcomes of periampullary cancer: a population-based analysis demonstrating improved outcomes and increased use of adjuvant therapy from 2004 to 2012","volume":"119","author":"Hester","year":"2019","journal-title":"J Surg Oncol"},{"key":"2025112108510474000_72.11.762.2","doi-asserted-by":"crossref","unstructured":"Bronsert P , Kohler I , Werner M , et al . 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