FGFR1 variation in the divergent settings of congenital hypopituitarism and pituitary tumours.

ABSTRACT:

Purpose

Pituitary tumours are relatively common, and familial in approximately 5% of cases. However, germline genetic contributions to pituitary tumour development are incompletely characterised. Preliminary evidence suggests pituitary tumours may be promoted by variants in pituitary organogenesis genes. Our study aimed to identify rare germline variants in pituitary organogenesis genes that may contribute to pituitary tumour development.

Methods

A familial case of pituitary disease was investigated. We also examined 36 pituitary organogenesis genes in 134 individuals with pituitary tumours using a targeted next-generation sequencing panel, identifying and characterising variants with a population allele frequency < 0.05%.

Results

One patient with a prolactin-secretin

SUBMITTER: Orsmond A 

PROVIDER: S-EPMC11893631 | biostudies-literature | 2025 Mar

REPOSITORIES: biostudies-literature