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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 and Burman, Pia LU , et al. (2023) In European Journal of Endocrinology 189(3). p.372-378
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... (More)

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.

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organization
publishing date
type
Contribution to journal
publication status
published
subject
keywords
aggressive, carcinoma, lactotroph tumour, prolactinoma, SF3B1
in
European Journal of Endocrinology
volume
189
issue
3
pages
7 pages
publisher
Society of the European Journal of Endocrinology
external identifiers
  • pmid:37721395
  • scopus:85171513318
ISSN
1479-683X
DOI
10.1093/ejendo/lvad114
language
English
LU publication?
yes
id
7dc06402-19a4-4f14-bdd0-2126151d12a3
date added to LUP
2023-12-13 12:56:48
date last changed
2024-04-26 06:35:49
@article{7dc06402-19a4-4f14-bdd0-2126151d12a3,
  abstract     = {{<p>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 &gt; A (p.Arg625His) (n = 4, 3 of which metastatic) and a previously undescribed in pituitary tumours variant c.1873C &gt; 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.</p>}},
  author       = {{Simon, Julia and Perez-Rivas, Luis Gustavo and Zhao, Yining and Chasseloup, Fanny and Lasolle, Helene and Cortet, Christine and Descotes, Francoise and Villa, Chiara and Baussart, Bertrand and Burman, Pia and Maiter, Dominique and von Selzam, Vivian and Rotermund, Roman and Flitsch, Jörg and Thorsteinsdottir, Jun and Jouanneau, Emmanuel and Buchfelder, Michael and Chanson, Philippe and Raverot, Gerald and Theodoropoulou, Marily}},
  issn         = {{1479-683X}},
  keywords     = {{aggressive; carcinoma; lactotroph tumour; prolactinoma; SF3B1}},
  language     = {{eng}},
  month        = {{09}},
  number       = {{3}},
  pages        = {{372--378}},
  publisher    = {{Society of the European Journal of Endocrinology}},
  series       = {{European Journal of Endocrinology}},
  title        = {{Prevalence and clinical correlations of SF3B1 variants in lactotroph tumours}},
  url          = {{http://dx.doi.org/10.1093/ejendo/lvad114}},
  doi          = {{10.1093/ejendo/lvad114}},
  volume       = {{189}},
  year         = {{2023}},
}