Prevalence and clinical associations of USP8 variants in corticotroph tumours: a systematic review and aggregate data meta-analysis of 2171 cases
Authors' conclusion
The present meta-analysis shows that patients with USP8 variant tumours are mostly female, diagnosed at younger age, more likely to achieve postoperative remission, but at a higher risk of recurrence than those with tumours carrying the reference allele.
Study context
- Population
- Original studies including ≥5 patients with CD reporting genetic USP8 status; functional and silent/non-functioning corticotroph tumours; PubMed, Embase, Web of Science
- Participants
- 2,171 participants44 studies
- Comparison
- USP8 variant vs reference allele corticotroph tumours
- USP8 variantsn = 692
- Outcome
- Prevalence of USP8 variants
Methodological detailsrandom-effects model, meta-regression, aggregate data
- Random-effects model
- Meta-regression
- Aggregate data
Pooled result
As reported in the abstract
Pooled prevalence of USP8 variants
Pooled prevalence
31.1%
95% CI 26.5%–36.0%
Prevalence in functional tumours
34.1%
95% CI 29.4%–39.1%
Further pooled results
Prevalence of USP8 variants in functional tumours
- Pooled prevalence, functional tumours (higher than overall)
- 34.1% (95% CI, 29.4%-39.1%)
Female sex
- Patients with USP8 variants mostly female, OR
- 4.52 (95% CI, 3.39-6.02)
Postoperative remission
- USP8 status associated with higher odds of postoperative remission, OR
- 1.76 (95% CI, 1.18-2.63)
Recurrence
- USP8 status associated with higher odds of recurrence, OR
- 2.38 (95% CI, 1.03-5.48)
Age at diagnosis
- Patients with USP8 variants younger at diagnosis on average (years)
- 4.47 (95% CI, 2.28-6.65 years younger)
Other clinical or tumour variables
- No clear evidence of association with any other clinical or tumour variable, mostly due to heterogeneity among studies
Meta-regression of variability in USP8 variant prevalence
- Related to female/male ratio, adjusted R2
- 0.301
- Not related to other variables, such as tumour size or invasion
Original publication
Prevalence and clinical associations of USP8 variants in corticotroph tumours: a systematic review and aggregate data meta-analysis of 2171 cases. Eur J Endocrinol. Published 20 May 2025. doi:10.
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