A long‐term prognosis study of human USP8‐mutated adrenocorticotropin hormone (ACTH)‐secreting pituitary neuroendocrine tumours
Authors' conclusion
Somatic USP8 variants accounted for 50% of the genetic causes in this cohort with a significant female frequency. A long-term follow-up revealed a tendency toward shorter recurrence-free survival in USP8-mutant patients.
Study context
- Population
- Patients with pituitary corticotroph tumours (Cushing disease) operated November 2013 to January 2015, single centre
- Participants
- 48 patients
- Exposure
- USP8-mutated vs USP8 wild-type corticotroph tumours
- USP8 variantsn = 24
- Outcome
- Prevalence of USP8 variants
Methodological detailssingle-centre
- Single-centre
Main finding
As reported in the abstract
Seven USP8 variants identified; patients with USP8 variants
24
50%
Observational data: associations, not effects.
Further findings
Female sex
P = 0.022
Recurrence · median 62 months follow-up
Recurrence-free survival · tendency to be shorter in USP8-mutated
P = 0.068
Age at surgery, p.Ser719del vs p.Pro720Arg
- Older age at surgery with p.Ser719del vs p.Pro720Arg (47 vs 24 years)
- P = 0.033
Macroadenoma, p.Pro720Arg vs p.Ser718Pro
- Higher macroadenoma rate with p.Pro720Arg vs p.Ser718Pro (60% vs 0%)
- P = 0.037
Serum and urinary cortisol and ACTH levels
- No significant differences
Immediate surgical remission
- Not significantly different between the two groups (79% vs 75%)
- Group order of values not stated
Long-term hormone remission
- Not significantly different between the two groups (79% vs 67%)
- Group order of values not stated
Original publication
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