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, Vol. 189, No. 3, 01.09.2023, p. 372-378.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Harvard
APA
Vancouver
Bibtex
}
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 -