{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,13]],"date-time":"2025-12-13T03:37:53Z","timestamp":1765597073535,"version":"3.48.0"},"reference-count":22,"publisher":"BMJ","issue":"1","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["J Clin Pathol"],"accepted":{"date-parts":[[2020,8,13]]},"published-print":{"date-parts":[[2021,1]]},"abstract":"<jats:p>\n                    The\n                    <jats:italic>GTF2I<\/jats:italic>\n                    is a general transcription factor and its mutations have been reported to be recurrent in thymic epithelial tumours and are rare in other malignancies. Apart from thymic epithelial tumours, these mutations have also been reported in a subgroup of T cell lymphomas, angioimmunoblastic T cell lymphomas. Soft tissue angiofibroma has been reported to harbour\n                    <jats:italic>GTF2I<\/jats:italic>\n                    -\n                    <jats:italic>NCOA2<\/jats:italic>\n                    fusion, whereas\n                    <jats:italic>GTF2I<\/jats:italic>\n                    partners with Retinoic acid receptor alpha\n                    <jats:italic>(RARA)<\/jats:italic>\n                    in acute promyelocytic leukaemia as\n                    <jats:italic>GTF2I<\/jats:italic>\n                    -\n                    <jats:italic>RARA<\/jats:italic>\n                    .\n                    <jats:italic>GTF2I<\/jats:italic>\n                    has also been implicated in immune disorders and two neuropsychiatric genetic disorders, namely autism and Williams-Beuren syndrome. The various structural, biochemical and functional properties of\n                    <jats:italic>GTF2I<\/jats:italic>\n                    suggest towards the oncogenic nature of this gene. Studies involving patients are presently few and the availability of biospecimens amenable to molecular diagnostic studies is limited. Future studies involving biospecimens and transformed cell lines shall provide a clear understanding of the\n                    <jats:italic>GTF2I<\/jats:italic>\n                    mechanistic to eventually lead to targeted treatment.\n                  <\/jats:p>","DOI":"10.1136\/jclinpath-2020-207013","type":"journal-article","created":{"date-parts":[[2020,9,9]],"date-time":"2020-09-09T17:21:17Z","timestamp":1599672077000},"page":"1-4","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":13,"title":["Gene of the month:\n                    <i>GTF2I<\/i>"],"prefix":"10.1136","volume":"74","author":[{"given":"Shrinidhi","family":"Nathany","sequence":"first","affiliation":[{"name":"Molecular Diagnostics, Rajiv Gandhi Cancer Institute and Research Centre, Delhi, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rupal","family":"Tripathi","sequence":"additional","affiliation":[{"name":"Department of Research, Rajiv Gandhi Cancer Institute and Research Centre, Delhi, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6517-3664","authenticated-orcid":false,"given":"Anurag","family":"Mehta","sequence":"additional","affiliation":[{"name":"Department of Laboratory Services, Molecular Diagnostics and Transfusion Medicine, Rajiv Gandhi Cancer Institute and Research Centre, Delhi, India"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2020,9,9]]},"reference":[{"key":"2025121219330376000_74.1.1.1","doi-asserted-by":"publisher","DOI":"10.1002\/cpbi.5"},{"key":"2025121219330376000_74.1.1.2","doi-asserted-by":"publisher","DOI":"10.1016\/j.molmed.2017.04.002"},{"key":"2025121219330376000_74.1.1.3","doi-asserted-by":"publisher","DOI":"10.1093\/emboj\/16.23.7091"},{"key":"2025121219330376000_74.1.1.4","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M002980200"},{"key":"2025121219330376000_74.1.1.5","doi-asserted-by":"publisher","DOI":"10.1016\/j.molcel.2006.09.005"},{"key":"2025121219330376000_74.1.1.6","doi-asserted-by":"publisher","DOI":"10.1038\/nature07765"},{"key":"2025121219330376000_74.1.1.7","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1200\/PO.17.00011","article-title":"OncoKB: a precision oncology knowledge base","volume":"2017","author":"Chakravarty","year":"2017","journal-title":"JCO Precis Oncol"},{"key":"2025121219330376000_74.1.1.8","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.94.2.604"},{"key":"2025121219330376000_74.1.1.9","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2013.02.014"},{"key":"2025121219330376000_74.1.1.10","doi-asserted-by":"publisher","DOI":"10.21873\/anticanres.11974"},{"key":"2025121219330376000_74.1.1.11","doi-asserted-by":"crossref","first-page":"18","DOI":"10.21037\/med.2017.11.03","article-title":"GTF2I gene mutation\u2014a driver of thymoma pathogenesis","volume":"1","author":"M\u00fcllauer","year":"2017","journal-title":"Mediastinum"},{"key":"2025121219330376000_74.1.1.12","doi-asserted-by":"publisher","DOI":"10.1038\/ng.3016"},{"key":"2025121219330376000_74.1.1.13","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gky1015"},{"key":"2025121219330376000_74.1.1.14","doi-asserted-by":"publisher","DOI":"10.1016\/j.ccell.2018.01.003"},{"key":"2025121219330376000_74.1.1.15","doi-asserted-by":"crossref","first-page":"36","DOI":"10.21037\/med.2019.08.03","article-title":"Deciphering the biology of thymic epithelial tumors","volume":"3","author":"Rajan","year":"2019","journal-title":"Mediastinum"},{"key":"2025121219330376000_74.1.1.16","doi-asserted-by":"crossref","first-page":"17763","DOI":"10.18632\/oncotarget.14846","article-title":"Angioimmunoblastic T cell lymphoma: novel molecular insights by mutation profiling","volume":"8","author":"Wang","year":"2017","journal-title":"Oncotarget"},{"key":"2025121219330376000_74.1.1.17","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2016-02-698977"},{"key":"2025121219330376000_74.1.1.18","doi-asserted-by":"crossref","first-page":"750","DOI":"10.1002\/gcc.22478","article-title":"Soft tissue angiofibroma: clinicopathologic, immunohistochemical and molecular analysis of 14 cases","volume":"56","author":"Bekers","year":"2017","journal-title":"Genes Chromosomes Cancer"},{"key":"2025121219330376000_74.1.1.19","unstructured":"Smith MR , Foster PA . GTF2I-RARA is a novel fusion transcript in a t (7\u202f; 17) variant of acute promyelocytic leukaemia with clinical resistance to retinoic acid 2015."},{"key":"2025121219330376000_74.1.1.20","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0184715","article-title":"Correction: a new GTF2I-BRAF fusion mediating MAPK pathway activation in pilocytic astrocytoma","volume":"12","author":"Tomi\u0107","year":"2017","journal-title":"PLoS One"},{"key":"2025121219330376000_74.1.1.21","doi-asserted-by":"publisher","DOI":"10.1097\/MD.0000000000016716"},{"key":"2025121219330376000_74.1.1.22","doi-asserted-by":"publisher","DOI":"10.1016\/j.mcp.2017.12.005"}],"container-title":["Journal of Clinical Pathology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jclinpath-2020-207013","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,12,13]],"date-time":"2025-12-13T03:33:17Z","timestamp":1765596797000},"score":1,"resource":{"primary":{"URL":"https:\/\/jcp.bmj.com\/lookup\/doi\/10.1136\/jclinpath-2020-207013"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,9,9]]},"references-count":22,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2020,12,11]]},"published-print":{"date-parts":[[2021,1]]}},"alternative-id":["10.1136\/jclinpath-2020-207013"],"URL":"https:\/\/doi.org\/10.1136\/jclinpath-2020-207013","relation":{},"ISSN":["0021-9746","1472-4146"],"issn-type":[{"type":"print","value":"0021-9746"},{"type":"electronic","value":"1472-4146"}],"subject":[],"published":{"date-parts":[[2020,9,9]]}}}