{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,3]],"date-time":"2026-03-03T21:04:04Z","timestamp":1772571844649,"version":"3.50.1"},"reference-count":35,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2017,8,24]],"date-time":"2017-08-24T00:00:00Z","timestamp":1503532800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100000265","name":"Medical Research Council","doi-asserted-by":"publisher","award":["RG84369"],"award-info":[{"award-number":["RG84369"]}],"id":[{"id":"10.13039\/501100000265","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000289","name":"Cancer Research UK","doi-asserted-by":"publisher","award":["C14478\/A12088"],"award-info":[{"award-number":["C14478\/A12088"]}],"id":[{"id":"10.13039\/501100000289","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["The Journal of Pathology CR"],"published-print":{"date-parts":[[2017,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The early detection and endoscopic treatment of patients with the dysplastic stage of Barrett's oesophagus is a key to preventing progression to oesophageal adenocarcinoma. However, endoscopic surveillance protocols are hampered by the invasiveness of repeat endoscopy, sampling bias, and a subjective histopathological diagnosis of dysplasia. In this case\u2010control study, we investigated the use of a non\u2010invasive, pan\u2010oesophageal cell\u2010sampling device, the Cytosponge\u2122, coupled with a cancer hot\u2010spot panel to identify patients with dysplastic Barrett's oesophagus. Formalin\u2010fixed, paraffin\u2010embedded (FFPE) Cytosponge\u2122 samples from 31 patients with non\u2010dysplastic and 28 with dysplastic Barrett's oesophagus with good available clinical annotation were selected for inclusion. Samples were microdissected and amplicon sequencing performed using a panel covering <jats:italic>&gt;<\/jats:italic>2800 COSMIC hot\u2010spot mutations in 50 oncogenes and tumour suppressor genes<jats:italic>. S<\/jats:italic>trict mutation criteria were determined and duplicates were run to confirm any mutations with an allele frequency &lt;12%. When compared with endoscopy and biopsy as the gold standard the panel achieved a 71.4% sensitivity (95% CI 51.3\u201386.8) and 90.3% (95% CI 74.3\u201398.0) specificity for diagnosing dysplasia. <jats:italic>TP53<\/jats:italic> had the highest rate of mutation in 14\/28 dysplastic samples (50%). <jats:italic>CDKN2A<\/jats:italic> was mutated in 6\/28 (21.4%), ERBB2 in 3\/28 (10.7%), and 5 other genes at lower frequency. The only gene from this panel found to be mutated in the non\u2010dysplastic cases was <jats:italic>CDKN2A<\/jats:italic> in 3\/31 cases (9.7%) in keeping with its known loss early in the natural history of the disease. Hence, it is possible to apply a multi\u2010gene cancer hot\u2010spot panel and next\u2010generation sequencing to microdissected, FFPE samples collected by the Cytosponge\u2122, in order to distinguish non\u2010dysplastic from dysplastic Barrett's oesophagus. Further work is required to maximize the panel sensitivity.<\/jats:p>","DOI":"10.1002\/cjp2.80","type":"journal-article","created":{"date-parts":[[2017,7,21]],"date-time":"2017-07-21T12:38:20Z","timestamp":1500640700000},"page":"258-267","source":"Crossref","is-referenced-by-count":10,"title":["Application of a multi\u2010gene next\u2010generation sequencing panel to a non\u2010invasive oesophageal cell\u2010sampling device to diagnose dysplastic Barrett's oesophagus"],"prefix":"10.1002","volume":"3","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5031-5153","authenticated-orcid":false,"given":"Annalise","family":"Katz\u2010Summercorn","sequence":"first","affiliation":[{"name":"MRC Cancer Unit, University of Cambridge, Hutchison\/MRC Research Centre Box 197, Cambridge Biomedical Campus Cambridge UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shubha","family":"Anand","sequence":"additional","affiliation":[{"name":"Molecular Malignancy Laboratory, Haematology and Oncology Diagnostic Service Addenbrooke's Hospital, Cambridge University Hospitals NHS Foundation Trust Cambridge UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sophie","family":"Ingledew","sequence":"additional","affiliation":[{"name":"MRC Cancer Unit, University of Cambridge, Hutchison\/MRC Research Centre Box 197, Cambridge Biomedical Campus Cambridge UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuanxue","family":"Huang","sequence":"additional","affiliation":[{"name":"Molecular Malignancy Laboratory, Haematology and Oncology Diagnostic Service Addenbrooke's Hospital, Cambridge University Hospitals NHS Foundation Trust Cambridge UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thomas","family":"Roberts","sequence":"additional","affiliation":[{"name":"Molecular Malignancy Laboratory, Haematology and Oncology Diagnostic Service Addenbrooke's Hospital, Cambridge University Hospitals NHS Foundation Trust Cambridge UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nuria","family":"Galeano\u2010Dalmau","sequence":"additional","affiliation":[{"name":"MRC Cancer Unit, University of Cambridge, Hutchison\/MRC Research Centre Box 197, Cambridge Biomedical Campus Cambridge UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria","family":"O'Donovan","sequence":"additional","affiliation":[{"name":"MRC Cancer Unit, University of Cambridge, Hutchison\/MRC Research Centre Box 197, Cambridge Biomedical Campus Cambridge UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hongxiang","family":"Liu","sequence":"additional","affiliation":[{"name":"Molecular Malignancy Laboratory, Haematology and Oncology Diagnostic Service Addenbrooke's Hospital, Cambridge University Hospitals NHS Foundation Trust Cambridge UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3434-3568","authenticated-orcid":false,"given":"Rebecca C","family":"Fitzgerald","sequence":"additional","affiliation":[{"name":"MRC Cancer Unit, University of Cambridge, Hutchison\/MRC Research Centre Box 197, Cambridge Biomedical Campus Cambridge UK"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2017,8,24]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1136\/gut.47.2.251"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.3357"},{"key":"e_1_2_7_4_1","unstructured":"Cancer Research UK.Oesophageal Cancer Statistics 2016. Available from:http:\/\/www.cancerresearchuk.org\/healthprofessional\/cancer-statistics\/statistics-by-cancer-type\/oesophageal-cancer\/incidence."},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/dote.12520"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/ajg.2010.194"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1136\/gutjnl-2011-300730"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1136\/gutjnl-2013-305372"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1572-0241.2000.03182.x"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cgh.2008.11.024"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1097\/MEG.0b013e3282f8295d"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cgh.2008.12.027"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1053\/j.gastro.2016.10.041"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gie.2014.01.009"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1136\/gutjnl-2014-307278"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1136\/bmj.c4372"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pmed.1001780"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1572-0241.2001.04236.x"},{"key":"e_1_2_7_19_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pmed.0040067"},{"key":"e_1_2_7_20_1","doi-asserted-by":"publisher","DOI":"10.1002\/gcc.22220"},{"key":"e_1_2_7_21_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.3659"},{"key":"e_1_2_7_22_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.3013"},{"key":"e_1_2_7_23_1","doi-asserted-by":"publisher","DOI":"10.1016\/S2468-1253(16)30118-2"},{"key":"e_1_2_7_24_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2591"},{"key":"e_1_2_7_25_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0003-4975(01)03005-3"},{"key":"e_1_2_7_26_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13000-016-0473-7"},{"key":"e_1_2_7_27_1","doi-asserted-by":"publisher","DOI":"10.1053\/j.gastro.2015.07.053"},{"key":"e_1_2_7_28_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jmoldx.2015.02.006"},{"key":"e_1_2_7_29_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.yrtph.2015.09.011"},{"key":"e_1_2_7_30_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jmoldx.2014.06.001"},{"key":"e_1_2_7_31_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jmoldx.2013.05.003"},{"key":"e_1_2_7_32_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature20805"},{"key":"e_1_2_7_33_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.3343"},{"key":"e_1_2_7_34_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jmoldx.2014.09.004"},{"key":"e_1_2_7_35_1","doi-asserted-by":"publisher","DOI":"10.1158\/1940-6207.CAPR-09-0265"},{"key":"e_1_2_7_36_1","doi-asserted-by":"publisher","DOI":"10.1158\/1940-6207.CAPR-13-0289"}],"container-title":["The Journal of Pathology: Clinical Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fcjp2.80","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/pathsocjournals.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/cjp2.80","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,12]],"date-time":"2025-10-12T11:30:15Z","timestamp":1760268615000},"score":1,"resource":{"primary":{"URL":"https:\/\/pathsocjournals.onlinelibrary.wiley.com\/doi\/10.1002\/cjp2.80"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,8,24]]},"references-count":35,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2017,10]]}},"alternative-id":["10.1002\/cjp2.80"],"URL":"https:\/\/doi.org\/10.1002\/cjp2.80","archive":["Portico"],"relation":{},"ISSN":["2056-4538","2056-4538"],"issn-type":[{"value":"2056-4538","type":"print"},{"value":"2056-4538","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,8,24]]}}}