ESPE Abstracts

Introduction: Pituitary adenomas (PA) in pediatric and young patients comprise a rare pathology of unknown prevalence. The majority are sporadic, but 5% occur in a familial setting, either as isolated (FIPA) or as part of a syndrome. The identification of genetic alterations has broaden the scope of molecular investigations. We describe the clinical characteristics of patients with sporadic PA arising before the age of 35 years and perform thorough genetic screening for germline variants in probands and relatives.

Patients and Methods: We collected clinical characteristics at diagnosis of 265 patients (≤35 years) with a sporadic PA. Genetic screening was performed via next-generation sequencing using a customized gene panel and array comparative genomic hybridization. Clinical variables were compared among positive and negative patients in the pediatric and adolescent (<19 years) and young adults’ cohort (≥19-35 years).

Results: Among the total cohort, mean age was 19.5 years and 63.0% were females. Local mass effect symptoms were present in 23% and prolactinomas were the most frequent (45.3%). We identified disease-causing germline variants in 20 patients (Table 1). Genetically positive patients were younger and had larger tumor size at diagnosis. Healthy family carriers were also identified.

Conclusions: Variants in genes associated with syndromic forms of PA were detected in a large cohort of sporadic PA. We have identified novel variants in well-known genes, such as MEN1 and emphasized the lack of penetrance within families.