Prevalence and clinical correlations of SF3B1 variants in lactotroph tumours
Simon J, Perez-Rivas LG, Zhao Y, Chasseloup F, Lasolle H, Cortet C, Descotes F, Villa C, Baussart B, Burman P, Maiter D, von Selzam V, Rotermund R, Flitsch J, Thorsteinsdottir J, Jouanneau E, Buchfelder M, Chanson P, Raverot G, Theodoropoulou M (2023)
Publication Type: Journal article
Publication year: 2023
Journal
Book Volume: 189
Pages Range: 372-378
Journal Issue: 3
Abstract
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.
Authors with CRIS profile
Involved external institutions
Klinikum der Universität München
Germany (DE)
Université Paris-Saclay
France (FR)
Université Claude Bernard Lyon 1 (UCB)
France (FR)
Centre Hospitalier Régional Universitaire de Lille (CHRU de Lille)
France (FR)
Centre Hospitalier Lyon Sud (CHLS)
France (FR)
Pitié-Salpêtrière University Hospital / Hôpital universitaire Pitié-Salpêtrière
France (FR)
Skåne University Hospital / Skånes universitetssjukhus
Sweden (SE)
Cliniques universitaires Saint-Luc (CHU St-Luc)
Belgium (BE)
Universitätsklinikum Hamburg-Eppendorf (UKE)
Germany (DE)
Germany (DE)
Université Paris-Saclay
France (FR)
Université Claude Bernard Lyon 1 (UCB)
France (FR)
Centre Hospitalier Régional Universitaire de Lille (CHRU de Lille)
France (FR)
Centre Hospitalier Lyon Sud (CHLS)
France (FR)
Pitié-Salpêtrière University Hospital / Hôpital universitaire Pitié-Salpêtrière
France (FR)
Skåne University Hospital / Skånes universitetssjukhus
Sweden (SE)
Cliniques universitaires Saint-Luc (CHU St-Luc)
Belgium (BE)
Universitätsklinikum Hamburg-Eppendorf (UKE)
Germany (DE)
How to cite
APA:
Simon, J., Perez-Rivas, L.G., Zhao, Y., Chasseloup, F., Lasolle, H., Cortet, C.,... Theodoropoulou, M. (2023). Prevalence and clinical correlations of SF3B1 variants in lactotroph tumours. European Journal of Endocrinology, 189(3), 372-378. https://dx.doi.org/10.1093/ejendo/lvad114
MLA:
Simon, Julia, et al. "Prevalence and clinical correlations of SF3B1 variants in lactotroph tumours." European Journal of Endocrinology 189.3 (2023): 372-378.
BibTeX: Download