{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,20]],"date-time":"2026-03-20T00:28:17Z","timestamp":1773966497232,"version":"3.50.1"},"reference-count":13,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2021,7,2]],"date-time":"2021-07-02T00:00:00Z","timestamp":1625184000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2021,7,2]],"date-time":"2021-07-02T00:00:00Z","timestamp":1625184000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"name":"University of Bergen"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Neurooncol"],"published-print":{"date-parts":[[2021,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec>\n                <jats:title>Introduction<\/jats:title>\n                <jats:p>Vestibular schwannoma (VS) is a benign intracranial tumor in which the underlying genetics is largely uncertain, apart from mutations in the tumor suppressor gene <jats:italic>NF2<\/jats:italic>. Alternative tumorigenic mechanisms have been proposed, including a recurrent in-frame fusion transcript of the <jats:italic>HTRA1<\/jats:italic> and <jats:italic>SH3PXD2A<\/jats:italic> genes. The gene product of the <jats:italic>SH3PXD2A-HTRA1<\/jats:italic> fusion has been shown to promote proliferation, invasion and resistance to cell death in vitro and tumor growth in vivo. The aim of this study was to replicate the findings and to investigate the frequency of this fusion gene in another cohort of vestibular schwannoma patients.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Methods<\/jats:title>\n                <jats:p>The <jats:italic>SH3PXD2A-HTRA1<\/jats:italic> transcript was synthesized in vitro using PCR and used as a positive control to assess the sensitivity of a real-time PCR assay. This real-time PCR assay was used to search for the presence of the fusion transcript in 121 Norwegian sporadic VS patients.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Results<\/jats:title>\n                <jats:p>The real-time PCR assay showed a high sensitivity and was able to detect as low as\u2009~\u20095 copies of the fusion transcript. Out of the 121 investigated tumors, only 1 harbored the <jats:italic>SH3PXD2A-HTRA1<\/jats:italic> fusion.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusion<\/jats:title>\n                <jats:p>Even though the <jats:italic>SH3PXD2A-HTRA1<\/jats:italic> fusion has been shown to be a driver of tumorigenesis, our results suggest that it is a rare event in our VS patients. Further investigation is warranted in order to elucidate whether our results represent an extreme, and if the fusion is present also in other neoplasms.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1007\/s11060-021-03796-6","type":"journal-article","created":{"date-parts":[[2021,7,2]],"date-time":"2021-07-02T12:02:31Z","timestamp":1625227351000},"page":"35-40","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["The SH3PXD2A-HTRA1 fusion transcript is extremely rare in Norwegian sporadic vestibular schwannoma patients"],"prefix":"10.1007","volume":"154","author":[{"given":"Peter","family":"Taule-Sivertsen","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ove","family":"Bruland","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aril L\u00f8ge","family":"H\u00e5vik","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eirik","family":"Bratland","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4331-7812","authenticated-orcid":false,"given":"Morten","family":"Lund-Johansen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Per Morten","family":"Knappskog","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2021,7,2]]},"reference":[{"issue":"6","key":"3796_CR1","doi-asserted-by":"publisher","first-page":"551","DOI":"10.3109\/00016489.2014.890293","volume":"134","author":"K Stepanidis","year":"2014","unstructured":"Stepanidis K, Kessel M, Caye-Thomasen P, Stangerup SE (2014) Socio-demographic distribution of vestibular schwannomas in Denmark. 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