Prevalence of somatic SF3B1 R625H mutation in lactotroph tumours from a multi-centric cohort: a digital PCR-based study
Authors' conclusion
SF3B1 somatic mutation status in lactotroph tumours-as assessed by digital PCR technology-is associated with a younger age at diagnosis and larger tumour diameter. However, in our cohort, it does not appear to be associated with histological features, higher recurrence, treatment resistance, tumour invasiveness, or long-term outcomes in our multi-centric cohort.
Study context
- Population
- Patients with prolactin-secreting pituitary neuroendocrine tumours (PitNET) (lactotroph tumours), multi-centric cohort
- Participants
- 127 patients
- Exposure
- SF3B1R625H-mutated vs wild-type lactotroph tumours
- Mutatedn = 21
- Outcome
- Prevalence of somatic SF3B1R625H mutation (digital PCR)
Methodological detailsmulti-centric, digital PCR-based
- Multi-centric
- Digital PCR-based
Main finding
As reported in the abstract
Somatic SF3B1R625H mutation prevalence
Patients with SF3B1R625H mutation
21 of 127
17%
Observational data: associations, not effects.
Further findings
| Outcome | P value |
|---|---|
| Age at diagnosisYounger age with mutation | P = 0.04 |
| Tumour diameterLarger diameter with mutation | P = 0.03 |
| Mutation frequency by surgical approachTranscranial surgery vs Transsphenoidal · higher mutation frequency with transcranial surgery | P = 0.01 |
Other clinical and histological features
- Mutation occurrence similar in males and females
- Preoperative and postoperative PRL comparable in mutant and wild-type
- No association with invasiveness, Ki-67, p53 expression, recurrence or dopamine agonist resistance
- Hypopituitarism at presentation, visual deficits, number of surgeries and disease-free survival not different
Original publication
Prevalence of somatic SF3B1 R625H mutation in lactotroph tumours from a multi-centric cohort: a digital PCR-based study. Eur J Endocrinol. Published 15 June 2026. doi:10. 1093/ ejendo/ lvag098
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