Prevalence and clinical correlations of SF3B1 variants in lactotroph tumours
Authors' conclusion
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.
Study context
- Population
- Patients with lactotroph tumours (including 6 metastatic) from 8 European centres6 metastatic
- Participants
- 282 patients
- Outcome
- Prevalence of driver SF3B1 variants (exon 14 hotspot, Sanger sequencing)
Methodological detailsmulticentre
- Multicentre
Main finding
As reported in the abstract
Prevalence of likely pathogenic SF3B1 variants
- Patients with SF3B1 variants
- 7
- c.1874G > A (p.Arg625His)
- n = 4, 3 of which metastatic
- c.1873C > T (p.Arg625Cys), previously undescribed in pituitary tumours
- n = 3 aggressive pituitary tumours
- Overall prevalence
- 2.5%
- Prevalence in metastatic cases
- 50%
Observational data: associations, not effects.
Further findings
Primary tumour vs metastasis
- Variant detected in both primary tumour and metastasis in metastatic tumours with tissue available
- 2
Clinical correlations
- SF3B1 variants correlated with significantly larger tumour size; higher Ki67 proliferation index; multiple treatments, incl. radiotherapy and chemotherapy; increased disease-specific death; and shorter postoperative survival
Original publication
Prevalence and clinical correlations of SF3B1 variants in lactotroph tumours. Eur J Endocrinol. Published 13 September 2023. doi:10.
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