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Prevalence and clin...
Prevalence and clinical correlations of SF3B1 variants in lactotroph tumours
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- Simon, Julia (författare)
- University Hospital Munich
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- Perez-Rivas, Luis Gustavo (författare)
- University Hospital Munich
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- Zhao, Yining (författare)
- Friedrich-Alexander University Erlangen-Nürnberg
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- Chasseloup, Fanny (författare)
- University of Paris-Saclay
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- Lasolle, Helene (författare)
- Claude Bernard University Lyon 1
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- Cortet, Christine (författare)
- Lille University Hospital
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- Descotes, Francoise (författare)
- Centre Hospitalier Lyon Sud
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- Villa, Chiara (författare)
- Pitié-Salpêtrière University Hospital
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- Baussart, Bertrand (författare)
- Pitié-Salpêtrière University Hospital
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- Burman, Pia (författare)
- Lund University,Lunds universitet,Translationell muskelforskning,Forskargrupper vid Lunds universitet,Translational Muscle Research,Lund University Research Groups,Skåne University Hospital
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- Maiter, Dominique (författare)
- Saint-Luc University Hospital
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- von Selzam, Vivian (författare)
- University Hospital Munich
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- Rotermund, Roman (författare)
- University Medical Center Hamburg-Eppendorf
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- Flitsch, Jörg (författare)
- University Medical Center Hamburg-Eppendorf
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- Thorsteinsdottir, Jun (författare)
- University Hospital Munich
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- Jouanneau, Emmanuel (författare)
- Claude Bernard University Lyon 1
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- Buchfelder, Michael (författare)
- Friedrich-Alexander University Erlangen-Nürnberg
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- Chanson, Philippe (författare)
- University of Paris-Saclay
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- Raverot, Gerald (författare)
- Claude Bernard University Lyon 1
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- Theodoropoulou, Marily (författare)
- University Hospital Munich
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(creator_code:org_t)
- 2023
- 2023
- Engelska 7 s.
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Ingår i: European Journal of Endocrinology. - 1479-683X. ; 189:3, s. 372-378
- Relaterad länk:
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http://dx.doi.org/10...
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https://lup.lub.lu.s...
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https://doi.org/10.1...
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Abstract
Ämnesord
Stäng
- OBJECTIVE: A somatic mutational hotspot in the SF3B1 gene was reported in lactotroph tumours. The aim of our study was to examine the prevalence of driver SF3B1 variants in a multicentre independent cohort of patients with lactotroph tumours and correlate with clinical data. DESIGN AND METHODS: This was a retrospective, multicentre study involving 282 patients with lactotroph tumours (including 6 metastatic lactotroph tumours) from 8 European centres. We screened SF3B1 exon 14 hotspot for somatic variants using Sanger sequencing and correlated with clinicopathological data. RESULTS: We detected SF3B1 variants in seven patients with lactotroph tumours: c.1874G > A (p.Arg625His) (n = 4, 3 of which metastatic) and a previously undescribed in pituitary tumours variant c.1873C > T (p.Arg625Cys) (n = 3 aggressive pituitary tumours). In two metastatic lactotroph tumours with tissue available, the variant was detected in both primary tumour and metastasis. The overall prevalence of likely pathogenic SF3B1 variants in lactotroph tumours was 2.5%, but when we considered only metastatic cases, it reached the 50%. SF3B1 variants correlated with significantly larger tumour size; higher Ki67 proliferation index; multiple treatments, including radiotherapy and chemotherapy; increased disease-specific death; and shorter postoperative survival. CONCLUSIONS: SF3B1 variants are uncommon in lactotroph tumours but may be frequent in metastatic lactotroph tumours. When present, they associate with aggressive tumour behaviour and worse clinical outcome.
Ämnesord
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Cancer och onkologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Cancer and Oncology (hsv//eng)
Nyckelord
- aggressive
- carcinoma
- lactotroph tumour
- prolactinoma
- SF3B1
Publikations- och innehållstyp
- art (ämneskategori)
- ref (ämneskategori)
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Simon, Julia
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Perez-Rivas, Lui ...
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Zhao, Yining
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Chasseloup, Fann ...
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Lasolle, Helene
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Cortet, Christin ...
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visa fler...
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Descotes, Franco ...
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Villa, Chiara
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Baussart, Bertra ...
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Burman, Pia
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Maiter, Dominiqu ...
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von Selzam, Vivi ...
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Rotermund, Roman
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Flitsch, Jörg
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Thorsteinsdottir ...
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Jouanneau, Emman ...
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Buchfelder, Mich ...
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Chanson, Philipp ...
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Raverot, Gerald
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Theodoropoulou, ...
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