دورية أكاديمية
Prevalence and clinical correlations of SF3B1 variants in lactotroph tumours.
| العنوان: | Prevalence and clinical correlations of SF3B1 variants in lactotroph tumours. |
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| المؤلفون: | Simon, Julia, Perez-Rivas, Luis Gustavo, Zhao, Yining, Chasseloup, Fanny, Lasolle, Helene, Cortet, Christine, Descotes, Francoise, Villa, Chiara, Baussart, Bertrand, Burman, Pia, Maiter, Dominique, von Selzam, Vivian, Rotermund, Roman, Flitsch, Jörg, Thorsteinsdottir, Jun, Jouanneau, Emmanuel, Buchfelder, Michael, Chanson, Philippe, Raverot, Gerald, Theodoropoulou, Marily |
| المساهمون: | UCL - SSS/IREC/EDIN - Pôle d'endocrinologie, diabète et nutrition, UCL - (SLuc) Service d'endocrinologie et de nutrition |
| المصدر: | European journal of endocrinology, Vol. 189, no.3, p. 372-378 (2023) |
| بيانات النشر: | Oxford University Press |
| سنة النشر: | 2023 |
| المجموعة: | DIAL@USL-B (Université Saint-Louis, Bruxelles) |
| مصطلحات موضوعية: | Humans, Pituitary Neoplasms, Lactotrophs, Prevalence, Retrospective Studies, Transcription Factors, RNA Splicing Factors, Phosphoproteins, SF3B1, aggressive, carcinoma, lactotroph tumour, prolactinoma |
| الوصف: | 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. |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| تدمد: | 0804-4643 1479-683X |
| العلاقة: | boreal:285092; http://hdl.handle.net/2078.1/285092Test; info:pmid/37721395; urn:ISSN:0804-4643; urn:EISSN:1479-683X |
| DOI: | 10.1093/ejendo/lvad114 |
| الإتاحة: | https://doi.org/10.1093/ejendo/lvad114Test http://hdl.handle.net/2078.1/285092Test |
| حقوق: | info:eu-repo/semantics/openAccess |
| رقم الانضمام: | edsbas.775E0B88 |
| قاعدة البيانات: | BASE |
Full Text Finder | تدمد: | 08044643 1479683X |
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| DOI: | 10.1093/ejendo/lvad114 |