Pituitary & hypothalamus

Prevalence of somatic SF3B1 R625H mutation in lactotroph tumours from a multi-centric cohort: a digital PCR-based study

Eur J EndocrinolPublished Multicentre cohort 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

OutcomeP value
Age at diagnosisYounger age with mutationP = 0.04
Tumour diameterLarger diameter with mutationP = 0.03
Mutation frequency by surgical approachTranscranial surgery vs Transsphenoidal · higher mutation frequency with transcranial surgeryP = 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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