Diagnostics
Clinical Presentation and Targeted Genetic Evaluation of Familial Isolated Pituitary Adenomas: A Single-Center Case Series
By Cristiana Călin, Iulia Florentina Burcea, Ramona Dobre and 5 others.
Abstract
Background
Familial isolated pituitary adenomas (FIPA) are characterized by considerable clinical and genetic heterogeneity. Although germline pathogenic variants in AIP account for a subset of cases, most FIPA families remain genetically unexplained. We aimed to describe the clinical characteristics, tumor phenotype, treatment outcomes, and targeted genetic evaluation of FIPA families from a tertiary endocrine referral center.
Methods
We retrospectively identified FIPA families among patients with pituitary neuroendocrine tumors (PitNETs) evaluated at a tertiary endocrine referral center between 2019 and 2024. FIPA was defined as PitNETs occurring in at least two related individuals without clinical features suggestive of syndromic endocrine disease. Clinical, radiological, histopathological, and genetic data were analyzed.