FGFR1 variation in the divergent settings of congenital hypopituitarism and pituitary tumours
Authors' conclusion
Our results suggest that the FGFR1 D129A variant may be associated with pituitary tumorigenesis but the role of other pituitary embryogenesis genes remains unclear. Additional independent cohorts and functional studies are required.
Study context
- Population
- Individuals with pituitary tumours, plus a familial case of pituitary diseaseplus 1 familial case
- Participants
- 134 individuals
- Comparison
- Pituitary tumour cohort vs Genome Aggregation Database (gnomAD) control population
- Pituitary tumourn = 134
- Outcome
- Rare germline variants (population allele frequency < 0.05%) in pituitary organogenesis genes
Methodological detailsfamily case investigation, targeted next-generation sequencing panel
- Family case investigation
- Targeted next-generation sequencing panel
Main finding
As reported in the abstract
Rare germline variants in pituitary organogenesis genes
Pituitary tumour
40%
54 of 134
- Rare germline variants observed
- 66
Original publication
FGFR1 variation in the divergent settings of congenital hypopituitarism and pituitary tumours. Pituitary. Published 10 March 2025. doi:10.
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