PortalPublikationenPrevalence and clinical correlations of SF3B1 variants in la...

Prevalence and clinical correlations of SF3B1 variants in lactotroph tumours

Standard

Prevalence and clinical correlations of SF3B1 variants in lactotroph tumours. / 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.

in: EUR J ENDOCRINOL, Jahrgang 189, Nr. 3, 01.09.2023, S. 372-378.

Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung

Harvard

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, 'Prevalence and clinical correlations of SF3B1 variants in lactotroph tumours', EUR J ENDOCRINOL, Jg. 189, Nr. 3, S. 372-378. https://doi.org/10.1093/ejendo/lvad114

APA

Simon, J., Perez-Rivas, L. G., 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). Prevalence and clinical correlations of SF3B1 variants in lactotroph tumours. EUR J ENDOCRINOL, 189(3), 372-378. https://doi.org/10.1093/ejendo/lvad114

Vancouver

Simon J, Perez-Rivas LG, Zhao Y, Chasseloup F, Lasolle H, Cortet C et al. Prevalence and clinical correlations of SF3B1 variants in lactotroph tumours. EUR J ENDOCRINOL. 2023 Sep 1;189(3):372-378. https://doi.org/10.1093/ejendo/lvad114

Bibtex

@article{232afafc640c4c1ba99eb18d2e8a36bf,
title = "Prevalence and clinical correlations of SF3B1 variants in lactotroph tumours",
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.",
keywords = "Humans, Pituitary Neoplasms/epidemiology, Lactotrophs, Prevalence, Retrospective Studies, Transcription Factors, RNA Splicing Factors/genetics, Phosphoproteins",
author = "Julia Simon and Perez-Rivas, {Luis Gustavo} and Yining Zhao and Fanny Chasseloup and Helene Lasolle and Christine Cortet and Francoise Descotes and Chiara Villa and Bertrand Baussart and Pia Burman and Dominique Maiter and {von Selzam}, Vivian and Roman Rotermund and J{\"o}rg Flitsch and Jun Thorsteinsdottir and Emmanuel Jouanneau and Michael Buchfelder and Philippe Chanson and Gerald Raverot and Marily Theodoropoulou",
note = "{\textcopyright} The Author(s) 2023. Published by Oxford University Press on behalf of European Society of Endocrinology. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.",
year = "2023",
month = sep,
day = "1",
doi = "10.1093/ejendo/lvad114",
language = "English",
volume = "189",
pages = "372--378",
journal = "EUR J ENDOCRINOL",
issn = "0804-4643",
publisher = "BioScientifica Ltd.",
number = "3",

}

RIS

TY - JOUR

T1 - Prevalence and clinical correlations of SF3B1 variants in lactotroph tumours

AU - Simon, Julia

AU - Perez-Rivas, Luis Gustavo

AU - Zhao, Yining

AU - Chasseloup, Fanny

AU - Lasolle, Helene

AU - Cortet, Christine

AU - Descotes, Francoise

AU - Villa, Chiara

AU - Baussart, Bertrand

AU - Burman, Pia

AU - Maiter, Dominique

AU - von Selzam, Vivian

AU - Rotermund, Roman

AU - Flitsch, Jörg

AU - Thorsteinsdottir, Jun

AU - Jouanneau, Emmanuel

AU - Buchfelder, Michael

AU - Chanson, Philippe

AU - Raverot, Gerald

AU - Theodoropoulou, Marily

N1 - © The Author(s) 2023. Published by Oxford University Press on behalf of European Society of Endocrinology. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.

PY - 2023/9/1

Y1 - 2023/9/1

N2 - 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.

AB - 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.

KW - Humans

KW - Pituitary Neoplasms/epidemiology

KW - Lactotrophs

KW - Prevalence

KW - Retrospective Studies

KW - Transcription Factors

KW - RNA Splicing Factors/genetics

KW - Phosphoproteins

U2 - 10.1093/ejendo/lvad114

DO - 10.1093/ejendo/lvad114

M3 - SCORING: Journal article

C2 - 37721395

VL - 189

SP - 372

EP - 378

JO - EUR J ENDOCRINOL

JF - EUR J ENDOCRINOL

SN - 0804-4643

IS - 3

ER -