{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,5]],"date-time":"2026-09-05T06:01:19Z","timestamp":1788588079189,"version":"build-2803163510"},"reference-count":41,"publisher":"Cold Spring Harbor Laboratory","issue":"6","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cold Spring Harb Mol Case Stud"],"published-print":{"date-parts":[[2017,11]]},"abstract":"<jats:p><jats:italic>FGFR2<\/jats:italic> is recurrently amplified in 5% of gastric cancers and 1%\u20134% of breast cancers; however, this molecular alteration has never been reported in a primary colorectal cancer specimen. Preclinical studies indicate that several FGFR tyrosine-kinase inhibitors (TKIs), such as AZD4547, have in vitro activity against the <jats:italic>FGFR2<\/jats:italic>-amplified colorectal cell line, NCI-H716. The efficacy of these inhibitors is currently under investigation in clinical trials for breast and gastric cancer. Thus, better characterizing colorectal tumors for <jats:italic>FGFR2<\/jats:italic> amplification could identify a subset of patients who may benefit from FGFR TKI therapies. Here, we describe a novel <jats:italic>FGFR2<\/jats:italic> amplification identified by clinical next-generation sequencing in a primary colorectal cancer. Further characterization of the tumor by immunohistochemistry showed neuroendocrine differentiation, similar to the reported properties of the NCI-H716 cell line. These findings demonstrate that the spectrum of potentially clinically actionable mutations detected by targeted clinical sequencing panels is not limited to only single-nucleotide polymorphisms and insertions\/deletions but also to copy-number alterations.<\/jats:p>","DOI":"10.1101\/mcs.a001495","type":"journal-article","created":{"date-parts":[[2017,8,24]],"date-time":"2017-08-24T01:05:16Z","timestamp":1503536716000},"page":"a001495","source":"Crossref","is-referenced-by-count":20,"title":["<i>FGFR2<\/i> amplification in colorectal adenocarcinoma"],"prefix":"10.1101","volume":"3","author":[{"given":"Jamal H.","family":"Carter","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Catherine E.","family":"Cottrell","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Samantha N.","family":"McNulty","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katinka A.","family":"Vigh-Conrad","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephen","family":"Lamp","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jonathan W.","family":"Heusel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eric J.","family":"Duncavage","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"246","published-online":{"date-parts":[[2017,8,23]]},"reference":[{"key":"2021112506134202000_3.6.a001495.1","doi-asserted-by":"publisher","DOI":"10.1200\/JCO.2007.14.7116"},{"key":"2021112506134202000_3.6.a001495.2","unstructured":"ATCC. 2016. NCI-H716 [H716] ATCC \u00ae CCL-251 Homo sapiens cecum Product sheet. from http:\/\/www.atcc.org\/products\/all\/CCL-251.aspx ."},{"key":"2021112506134202000_3.6.a001495.3","unstructured":"Bosman FT , World Health Organization and International Agency for Research on Cancer. 2010. WHO classification of tumours of the digestive system. International Agency for Research on Cancer, Lyon."},{"key":"2021112506134202000_3.6.a001495.4","doi-asserted-by":"publisher","DOI":"10.1038\/nature11252"},{"key":"2021112506134202000_3.6.a001495.5","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1301689"},{"key":"2021112506134202000_3.6.a001495.6","doi-asserted-by":"publisher","DOI":"10.1007\/BF02899698"},{"key":"2021112506134202000_3.6.a001495.7","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gku1075"},{"key":"2021112506134202000_3.6.a001495.8","doi-asserted-by":"crossref","unstructured":"Gagnon J , Brubaker PL . 2016. NCI-H716 cells, pp. 221\u2013228. Springer, Berlin.","DOI":"10.1007\/978-3-319-16104-4_20"},{"key":"2021112506134202000_3.6.a001495.9","doi-asserted-by":"publisher","DOI":"10.1038\/leu.2013.336"},{"key":"2021112506134202000_3.6.a001495.10","first-page":"631","article-title":"Clinical next-generation sequencing in patients with non\u2013small cell lung cancer","volume":"121","year":"2014","journal-title":"Cancer"},{"key":"2021112506134202000_3.6.a001495.11","doi-asserted-by":"crossref","first-page":"229","DOI":"10.1155\/2001\/981218","article-title":"CGH, cDNA and tissue microarray analyses implicate FGFR2 amplification in a small subset of breast tumors","volume":"22","year":"2001","journal-title":"Anal Cell Pathol"},{"key":"2021112506134202000_3.6.a001495.12","doi-asserted-by":"publisher","DOI":"10.1186\/bcr3139"},{"key":"2021112506134202000_3.6.a001495.13","doi-asserted-by":"publisher","DOI":"10.1158\/1541-7786.MCR-09-0442"},{"key":"2021112506134202000_3.6.a001495.14","doi-asserted-by":"publisher","DOI":"10.1016\/j.humpath.2011.12.002"},{"key":"2021112506134202000_3.6.a001495.15","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btp373"},{"key":"2021112506134202000_3.6.a001495.16","doi-asserted-by":"publisher","DOI":"10.1186\/s13059-015-0617-1"},{"key":"2021112506134202000_3.6.a001495.17","doi-asserted-by":"crossref","first-page":"2757","DOI":"10.1007\/s10620-014-3245-9","article-title":"Advanced colorectal adenomas in patients under 45 years of age are mostly sporadic","volume":"59","year":"2014","journal-title":"Dig Dis Sci"},{"key":"2021112506134202000_3.6.a001495.18","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btp352"},{"key":"2021112506134202000_3.6.a001495.19","doi-asserted-by":"crossref","first-page":"e98515","DOI":"10.1371\/journal.pone.0098515","article-title":"FGFR2 is amplified in the NCI-H716 colorectal cancer cell line and is required for growth and survival","volume":"9","year":"2014","journal-title":"PLoS One"},{"key":"2021112506134202000_3.6.a001495.20","doi-asserted-by":"publisher","DOI":"10.1038\/ncomms8002"},{"key":"2021112506134202000_3.6.a001495.21","unstructured":"National Comprehensive Cancer Network. 2016. Colon Cancer (Version 2.2016). From https:\/\/www.nccn.org\/professionals\/physician_gls\/pdf\/colon.pdf ."},{"key":"2021112506134202000_3.6.a001495.22","doi-asserted-by":"publisher","DOI":"10.1186\/1477-7819-3-36"},{"key":"2021112506134202000_3.6.a001495.23","first-page":"5875","article-title":"Chemosensitivity testing of human colorectal carcinoma cell lines using a tetrazolium-based colorimetric assay","volume":"47","year":"1987","journal-title":"Cancer Res"},{"key":"2021112506134202000_3.6.a001495.24","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20495"},{"key":"2021112506134202000_3.6.a001495.25","doi-asserted-by":"publisher","DOI":"10.1210\/en.142.10.4522"},{"key":"2021112506134202000_3.6.a001495.26","doi-asserted-by":"publisher","DOI":"10.1038\/nbt.1754"},{"key":"2021112506134202000_3.6.a001495.27","doi-asserted-by":"crossref","first-page":"251","DOI":"10.4251\/wjgo.v2.i6.251","article-title":"Goblet cell carcinoid tumors of the appendix: an overview","volume":"2","year":"2010","journal-title":"World J Gastrointest Oncol"},{"key":"2021112506134202000_3.6.a001495.28","doi-asserted-by":"publisher","DOI":"10.1159\/000369071"},{"key":"2021112506134202000_3.6.a001495.29","first-page":"5055","article-title":"Amplification of FGFR2 gene in patients with advanced gastric cancer receiving chemotherapy: prevalence and prognostic significance","volume":"35","year":"2015","journal-title":"Anticancer Res"},{"key":"2021112506134202000_3.6.a001495.30","doi-asserted-by":"publisher","DOI":"10.3322\/caac.21332"},{"key":"2021112506134202000_3.6.a001495.31","doi-asserted-by":"crossref","first-page":"456","DOI":"10.3109\/07357907.2011.590569","article-title":"Marked response to single agent trastuzumab in a patient with metastatic HER-2 gene amplified rectal cancer","volume":"29","year":"2011","journal-title":"Cancer Invest"},{"key":"2021112506134202000_3.6.a001495.32","doi-asserted-by":"publisher","DOI":"10.1097\/01.MP.0000097362.10330.B1"},{"key":"2021112506134202000_3.6.a001495.33","doi-asserted-by":"publisher","DOI":"10.1038\/bjc.2013.802"},{"key":"2021112506134202000_3.6.a001495.34","doi-asserted-by":"publisher","DOI":"10.1101\/010876"},{"key":"2021112506134202000_3.6.a001495.35","doi-asserted-by":"crossref","first-page":"e1004873","DOI":"10.1371\/journal.pcbi.1004873","article-title":"CNVkit: genome-wide copy number detection and visualization from targeted DNA sequencing","volume":"12","year":"2016","journal-title":"PLOS Computational Biology"},{"key":"2021112506134202000_3.6.a001495.36","doi-asserted-by":"publisher","DOI":"10.1038\/onc.2009.489"},{"key":"2021112506134202000_3.6.a001495.37","first-page":"5517","article-title":"Mixed adenoneuroendocrine carcinoma of the colon: molecular pathogenesis and treatment","volume":"34","year":"2014","journal-title":"Anticancer Res"},{"key":"2021112506134202000_3.6.a001495.38","doi-asserted-by":"publisher","DOI":"10.1200\/JCO.20.3.719"},{"key":"2021112506134202000_3.6.a001495.39","first-page":"2011","article-title":"Somatic gene copy number alterations in colorectal cancer: new quest for cancer drivers and biomarkers","volume":"35","year":"2015","journal-title":"Oncogene"},{"key":"2021112506134202000_3.6.a001495.40","doi-asserted-by":"publisher","DOI":"10.1158\/1078-0432.CCR-12-3898"},{"key":"2021112506134202000_3.6.a001495.41","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1614120113"}],"container-title":["Molecular Case Studies"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1101\/mcs.a001495","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,11,25]],"date-time":"2021-11-25T14:13:59Z","timestamp":1637849639000},"score":1,"resource":{"primary":{"URL":"http:\/\/molecularcasestudies.cshlp.org\/lookup\/doi\/10.1101\/mcs.a001495"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,8,23]]},"references-count":41,"journal-issue":{"issue":"6","published-online":{"date-parts":[[2017,11,21]]},"published-print":{"date-parts":[[2017,11]]}},"alternative-id":["10.1101\/mcs.a001495"],"URL":"https:\/\/doi.org\/10.1101\/mcs.a001495","relation":{},"ISSN":["2373-2865","2373-2873"],"issn-type":[{"value":"2373-2865","type":"print"},{"value":"2373-2873","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,8,23]]}}}