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Neuroendocrinology and Pituitary

SAT-069 - Clinical Profile and Germline Genetic Analysis in Young Patients with Pituitary Neuroendocrine Tumors

Saturday, June 13, 2026
9:30 AM - 4:30 PM CT
Location: ENDOExpo; Poster Floor
Disclosure(s):
Cristina Formiga Bueno, MD PhD: No financial relationships to disclose


Introduction:
Interest in the pathophysiology of pituitary neuroendocrine tumors (PitNETs) has increased substantially, particularly regarding their genetic background. Identification of specific genetic variants may provide relevant information on clinical presentation, prognosis, tumor aggressiveness and invasiveness, as well as potential response to standard pharmacological therapies. This study aimed to describe the clinical profile and investigate the presence of hereditary genetic variants in young patients with PitNETs.

Methods:
This was a cross-sectional, observational study including 15 patients aged ≤25 years with pituitary tumors followed at a tertiary referral center. A next-generation sequencing panel comprising 19 genes associated with hereditary pituitary adenomas (AIP, CABLES1, CDKN1B, DICER1, GNAS, GPR101, MAX, MEN1, NF1, PIK3CA, PRKAR1A, SDHA, SDHAF2, SDHB, SDHC, SDHD, SF3B1, USP48, and USP8) was performed.

Results:
Among the 15 patients, 8 were female and 7 were male. Mean age at diagnosis was 17 years (range 8–24). None had a positive family history of PitNET. Magnetic resonance imaging revealed lesions with a mean diameter of 2.4 cm (range 0.4–7.2). Regarding tumor subtype, 10 patients (66.6%) had prolactinomas (PRL levels 88–8005 ng/mL), three had Cushing’s disease, one had a clinically nonfunctioning adenoma, and one had gigantism.
Six prolactinoma patients achieved disease control with low-dose cabergoline; two remained hyperprolactinemic (PRL 284–1,126 ng/mL) despite high doses (>3.5 mg/week), one of whom had concomitant primary hyperparathyroidism, and two were under early follow-up. One patient with corticotrophinoma was newly diagnosed, while another remained in remission after transsphenoidal surgery. The patient with gigantism, diagnosed at 14 years of age, required two transsphenoidal surgeries and achieved good clinical and biochemical control with octreotide LAR.
Pathogenic or likely pathogenic variants in the analyzed genes were not identified in any patient. A variant of uncertain significance in the SDHD gene was detected in one 19-year-old patient with a 0.8cm prolactinoma.

Conclusion:
In this cohort of young patients with PitNETs, no pathogenic germline variants were identified using an extended hereditary adenoma gene panel. Combined genetic and epigenetic analyses, integrated with clinical and radiological data, may improve prediction of PitNET behavior in larger patient cohorts.

*Unless otherwise noted, all abstracts presented at ENDO must not be released to the press or the public until the date and time of presentation. For oral presentations, the abstracts are embargoed until the session begins. The Endocrine Society reserves the right to lift the embargo on specific abstracts that are selected for promotion prior to or during ENDO.*