{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,14]],"date-time":"2025-12-14T06:45:45Z","timestamp":1765694745793,"version":"3.48.0"},"reference-count":22,"publisher":"BMJ","issue":"3","funder":[{"name":"GIST Support UK","award":["GSUKNW02"],"award-info":[{"award-number":["GSUKNW02"]}]}],"content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["J Clin Pathol"],"accepted":{"date-parts":[[2020,6,20]]},"published-print":{"date-parts":[[2021,3]]},"abstract":"<jats:sec>\n                    <jats:title>Aim<\/jats:title>\n                    <jats:p>There is no known specific biomarker or genetic signal for quadruple wild-type (qWT) gastrointestinal stromal tumours (GISTs). By next-generation sequencing (NGS) of different GIST subgroups, this study aimed to characterise such a biomarker especially as a potential therapeutic target.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods and results<\/jats:title>\n                    <jats:p>\n                      An NGS panel of 672 kinase genes was applied to DNA extracted from 11 wild-type GISTs (including three qWT GISTs) and 5\n                      <jats:italic>KIT\/PDGFRA<\/jats:italic>\n                      mutated GISTs. Short variants which were present in qWT GISTs but no other GIST subgroup were shortlisted. After removing common population variants, in silico-classified deleterious variants were found in\n                      <jats:italic>CSNK2A1<\/jats:italic>\n                      ,\n                      <jats:italic>MERTK<\/jats:italic>\n                      ,\n                      <jats:italic>RHEB<\/jats:italic>\n                      ,\n                      <jats:italic>ROCK1<\/jats:italic>\n                      ,\n                      <jats:italic>PIKFYVE<\/jats:italic>\n                      and\n                      <jats:italic>TRRAP<\/jats:italic>\n                      . None of these variants were demonstrated in a separate cohort of four qWT GISTs.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>Short kinase variants which are specific to qWT GISTs are rare and are not universally demonstrated by this whole subgroup. It is therefore possible that the current definition of qWT GIST still covers a heterogenous population.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1136\/jclinpath-2020-206613","type":"journal-article","created":{"date-parts":[[2020,7,9]],"date-time":"2020-07-09T17:18:00Z","timestamp":1594315080000},"page":"194-197","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":1,"title":["Next-generation sequencing demonstrates the rarity of short kinase variants specific to quadruple wild-type gastrointestinal stromal tumours"],"prefix":"10.1136","volume":"74","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9537-4106","authenticated-orcid":false,"given":"Newton A C S","family":"Wong","sequence":"first","affiliation":[{"name":"Department of Cellular Pathology, Southmead Hospital, Bristol, UK"},{"name":"South West Genomic Laboratory Hub, Southmead Hospital, Bristol, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Olivier T","family":"Giger","sequence":"additional","affiliation":[{"name":"Department of Pathology, University of Cambridge, Cambridge, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rogier","family":"ten Hoopen","sequence":"additional","affiliation":[{"name":"Department of Oncology, University of Cambridge, Cambridge, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ruth T","family":"Casey","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, University of Cambridge, Cambridge, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kirsty","family":"Russell","sequence":"additional","affiliation":[{"name":"South West Genomic Laboratory Hub, Southmead Hospital, Bristol, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Claire","family":"Faulkner","sequence":"additional","affiliation":[{"name":"South West Genomic Laboratory Hub, Southmead Hospital, Bristol, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2020,7,9]]},"reference":[{"key":"2025121322431082000_74.3.194.1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2559.2011.03812.x"},{"key":"2025121322431082000_74.3.194.2","doi-asserted-by":"crossref","first-page":"101","DOI":"10.1002\/cam4.325","article-title":"Quadruple wild-type (WT) GIST: defining the subset of GIST that lacks abnormalities of kit, PDGFRA, SDH, or Ras signaling pathways","volume":"4","author":"Pantaleo","year":"2015","journal-title":"Cancer Med"},{"key":"2025121322431082000_74.3.194.3","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2013-101695"},{"key":"2025121322431082000_74.3.194.4","doi-asserted-by":"publisher","DOI":"10.1200\/JCO.2007.15.7461"},{"key":"2025121322431082000_74.3.194.5","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(10)61121-X"},{"key":"2025121322431082000_74.3.194.6","doi-asserted-by":"crossref","first-page":"347","DOI":"10.1007\/s00428-014-1535-4","article-title":"Prognostic and predictive biomarkers in lung cancer. 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