{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,16]],"date-time":"2026-04-16T16:51:44Z","timestamp":1776358304691,"version":"3.51.2"},"reference-count":34,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2021,2,24]],"date-time":"2021-02-24T00:00:00Z","timestamp":1614124800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Genes Chromosomes &amp; Cancer"],"published-print":{"date-parts":[[2021,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The fusion genes containing neuregulin\u20101 (<jats:italic>NRG1<\/jats:italic>) are newly described potentially actionable oncogenic drivers. Initial clinical trials have shown a positive response to targeted treatment in some cases of <jats:italic>NRG1<\/jats:italic> rearranged lung adenocarcinoma, cholangiocarcinoma, and pancreatic carcinoma. The cost\u2010effective large scale identification of <jats:italic>NRG1<\/jats:italic> rearranged tumors is an open question. We have tested a data\u2010drilling approach by performing a retrospective assessment of a de\u2010identified molecular profiling database of 3263 tumors submitted for fusion testing. Gene fusion detection was performed by RNA\u2010based targeted next\u2010generation sequencing using the Archer Fusion Plex kits for Illumina (ArcherDX Inc., Boulder, CO). Novel fusion transcripts were confirmed by a custom\u2010designed RT\u2010PCR. Also, the aberrant expression of CK20 was studied immunohistochemically. The frequency of <jats:italic>NRG1<\/jats:italic> rearranged tumors was 0.2% (7\/3263). The most common histologic type was lung adenocarcinoma (n = 5). Also, renal carcinoma (n = 1) and prostatic adenocarcinoma (n = 1) were found. Identified fusion partners were of a wide range (<jats:italic>CD74, SDC4, TNC, VAMP2, UNC5D<\/jats:italic>), with <jats:italic>CD74<\/jats:italic>, <jats:italic>SDC4<\/jats:italic> being found twice. The <jats:italic>UNC5D<\/jats:italic> is a novel fusion partner identified in prostate adenocarcinoma. There was no co\u2010occurrence with the other tested fusions nor <jats:italic>KRAS<\/jats:italic>, <jats:italic>BRAF<\/jats:italic>, and the other gene mutations specified in the applied gene panels. Immunohistochemically, the focal expression of CK20 was present in 2 lung adenocarcinomas. We believe it should be considered as an incidental finding. In conclusion, the overall frequency of tumors with <jats:italic>NRG1<\/jats:italic> fusion was 0.2%. All tumors were carcinomas. We confirm (invasive mucinous) lung adenocarcinoma as being the most frequent tumor presenting <jats:italic>NRG1<\/jats:italic> fusion. Herein novel putative pathogenic gene fusion <jats:italic>UNC5D<\/jats:italic>\u2010<jats:italic>NRG1<\/jats:italic> is described. The potential role of immunohistochemistry in tumor identification should be further addressed.<\/jats:p>","DOI":"10.1002\/gcc.22942","type":"journal-article","created":{"date-parts":[[2021,2,14]],"date-time":"2021-02-14T17:45:09Z","timestamp":1613324709000},"page":"474-481","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":15,"title":["Identification of tumors with <scp><i>NRG1<\/i><\/scp> rearrangement, including a novel putative pathogenic <scp><i>UNC5D\u2010NRG1<\/i><\/scp> gene fusion in prostate cancer by data\u2010drilling a de\u2010identified tumor database"],"prefix":"10.1002","volume":"60","author":[{"given":"Nikola","family":"Pt\u00e1kov\u00e1","sequence":"first","affiliation":[{"name":"Molecular Genetics Department Bioptick\u00e1 Laborato\u0159 s.r.o.  Pilsen Czech Republic"},{"name":"Second Faculty of Medicine Charles University  Prague Czech Republic"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Petr","family":"Mart\u00ednek","sequence":"additional","affiliation":[{"name":"Molecular Genetics Department Bioptick\u00e1 Laborato\u0159 s.r.o.  Pilsen Czech Republic"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lubo\u0161","family":"Holubec","sequence":"additional","affiliation":[{"name":"Department of Clinical Oncology Na Homolce Hospital  Prague Czech Republic"},{"name":"Second Department of Internal Medicine, Medical Faculty in Pilsen Charles University Prague  Pilsen Czech Republic"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"V\u00e1clav","family":"Janovsk\u00fd","sequence":"additional","affiliation":[{"name":"Department of Oncology Hospital \u010cesk\u00e9 Bud\u011bjovice  \u010cesk\u00e9 Bud\u011bjovice Czech Republic"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jana","family":"Van\u010durov\u00e1","sequence":"additional","affiliation":[{"name":"Department of Oncology Hospital \u010cesk\u00e9 Bud\u011bjovice  \u010cesk\u00e9 Bud\u011bjovice Czech Republic"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Petr","family":"Grossmann","sequence":"additional","affiliation":[{"name":"Molecular Genetics Department Bioptick\u00e1 Laborato\u0159 s.r.o.  Pilsen Czech Republic"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paloma Alcaraz","family":"Navarro","sequence":"additional","affiliation":[{"name":"Department of Pathology FiHM\u2013Centro Integral Oncol\u00f3gico Hospital de Madrid Clara Campal  Madrid Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Juan F.","family":"Rodriguez Moreno","sequence":"additional","affiliation":[{"name":"Department of Pathology FiHM\u2013Centro Integral Oncol\u00f3gico Hospital de Madrid Clara Campal  Madrid Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Reza","family":"Alaghehbandan","sequence":"additional","affiliation":[{"name":"Department of Pathology University of British Columbia, Royal Columbian Hospital  Vancouver British Columbia Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ond\u0159ej","family":"Hes","sequence":"additional","affiliation":[{"name":"Department of Pathology, Medical Faculty in Pilsen Charles University Prague  Pilsen Czech Republic"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ond\u0159ej","family":"M\u00e1jek","sequence":"additional","affiliation":[{"name":"Institute of Biostatistics and Analyses, Faculty of Medicine Masaryk University  Brno Czech Republic"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Milo\u0161","family":"Pe\u0161ek","sequence":"additional","affiliation":[{"name":"Department of Pneumology and Phthisiology, Medical Faculty in Pilsen Charles University Prague  Pilsen Czech Republic"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michal","family":"Michal","sequence":"additional","affiliation":[{"name":"Department of Pathology, Medical Faculty in Pilsen Charles University Prague  Pilsen Czech Republic"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4038-5641","authenticated-orcid":false,"given":"Ondrej","family":"Ondi\u010d","sequence":"additional","affiliation":[{"name":"Molecular Genetics Department Bioptick\u00e1 Laborato\u0159 s.r.o.  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