A novel pathogenic AIP variant associated with familial isolated pituitary adenoma
Authors' conclusion
This report expands the variants spectrum of AIP-related FIPA, confirming intra-familial phenotypic variability, from asymptomatic carriers to aggressive Pituitary adenoma/PitNet.
Study context
- Population
- Sardinian family; proband a 17-year-old girl with an invasive prolactin (PRL)-secreting Pituitary Neuroedocrine Tumor (Pit-NET), germline AIP testing extended to family membersproband and six relatives carriers
- Outcome
- Novel AIP variant and its pathogenicity
Methodological detailscase report, genetic, clinical and immunohistochemical analyses
- Case report
- Genetic, clinical and immunohistochemical analyses
Main finding
As reported in the abstract
- Novel heterozygous AIP germline variant c.479del (p.Pro160LeufsTer11) identified in the proband and six relatives
- Variant causes a premature stop codon, truncated protein lacking the three C-terminal tetratricopeptide repeat domains
- Immunohistochemistry showed reduced AIP expression
- Variant classified as pathogenic
Further findings
Clinical phenotype of carriers
- Cabergoline led to PRL normalization and tumor shrinkage in the proband
- Affected cousin had an aggressive GH-secreting pituitary adenoma/PitNet requiring multiple treatments
- All other carriers had no clinical findings and unremarkable imaging
Original publication
A novel pathogenic AIP variant associated with familial isolated pituitary adenoma. Pituitary. Published 20 April 2026. doi:10.
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