Genetic evaluation of pediatric pituitary adenomas and USP8-related genotype-phenotype correlations in Cushing’s disease
Authors' conclusion
Somatic USP8 pathogenic variants correlate with worse tumor behavior and patient outcomes in pediatric-onset CD. Unlike GH-secreting PAs, the genetic basis of the majority of pediatric corticotroph PAs remains unclear. Further studies are needed to explore the genetic drivers of pediatric CD.
Study context
- Population
- Pediatric patients with pituitary adenomas and available germline and/or tumor samples
- Participants
- 54 patients
- Comparison
- Cushing's disease (CD) with somatic USP8 pathogenic variants vs without USP8 variants
- USP8 variantn = 6
- Outcome
- Prevalence of genetic defects in pediatric pituitary adenomas (PAs) (germline and tumor testing)
Methodological detailsgermline and tumor testing
- Germline and tumor testing
Main finding
As reported in the abstract
Pathogenic/likely pathogenic germline or somatic variants
- Pathogenic/likely pathogenic germline or somatic variants, overall
- 14/54 (25.9%)
- Germline pathogenic AIP variant, GH excess
- 2 patients
- Germline likely pathogenic CDKN2A variant, CD
- 1 patient
- Somatic pathogenic GNAS variants, GH excess
- 4/7 (57.1%)
- Somatic pathogenic USP8 variants, CD
- 6/38 (15.8%)
- Pathogenic PRKAR1A, TP53 and MEN1 variants in one tumor
- 1 tumor
Further findings
Tumor size in CD
P = 0.048
Cavernous sinus invasion in CD · trend
P = 0.06
Non-remission after surgery in CD
P = 0.021
Original publication
Genetic evaluation of pediatric pituitary adenomas and USP8-related genotype-phenotype correlations in Cushing’s disease. Pituitary. Published 14 August 2025. doi:10.
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