Non-recurrent mutations and copy number changes predominate pituitary adenoma genomes
Authors' conclusion
This study highlights a role for individualized genetic events in PA formation and suggests that divergent patterns of genomic instability may facilitate tumorigenesis even within the same lineage. Taken together, we demonstrate how gene panels may illuminate novel biology in endocrine tumors.
Study context
- Population
- Pituitary adenomas from patients who underwent surgery at Brigham and Women's Hospital, 2012–2020
- Participants
- 171 pituitary adenomas (PAs)
- Outcome
- Genomic alterations across PA subtypes
Methodological detailscancer-focused gene panel, single-centre
- Cancer-focused gene panel
- Single-centre
Main finding
As reported in the abstract
- Known variants enriched in subtypes: GNAS (somatotroph) and USP8 (Cushing's disease)
- Total mutational burden did not vary across subtypes; most adenomas had a few non-recurrent mutations in established oncogenes and tumor suppressors
- Copy number alteration burden varied widely across subtypes and was associated with higher MIB1 labeling index
- Frequent deletions spanning MEN1 in prolactinomas and silent corticotroph adenomas
- Subtype-specific copy number changes incl. 16p, 16q alterations in somatotroph adenomas without GNAS mutations
- Corticotroph lineage: CD adenomas had few copy number alterations, silent corticotroph adenomas numerous
Observational data: associations, not effects.
Original publication
Non-recurrent mutations and copy number changes predominate pituitary adenoma genomes. Eur J Endocrinol. Published 29 April 2025. doi:10.
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