Prevalence and clinical correlations of SF3B1 variants in lactotroph tumours.

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. 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. 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. 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. © 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.

Citation

Julia Simon, Luis Gustavo Perez-Rivas, Yining Zhao, Fanny Chasseloup, Helene Lasolle, Christine Cortet, Francoise Descotes, Chiara Villa, Bertrand Baussart, Pia Burman, Dominique Maiter, Vivian von Selzam, Roman Rotermund, Jörg Flitsch, Jun Thorsteinsdottir, Emmanuel Jouanneau, Michael Buchfelder, Philippe Chanson, Gerald Raverot, Marily Theodoropoulou. Prevalence and clinical correlations of SF3B1 variants in lactotroph tumours. European journal of endocrinology. 2023 Sep 01;189(3):372-378

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PMID: 37721395

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