Year: 2025
Type: article
Study design: Case Report
Abstract: Disclosure: A. Olayiwola: None. N. Borja: None. C.V. Villabona: None. Introduction: We describe a case of a young man with MEN 1 aberrant phenotype with a heterozygous c.1694T>G variant. Case description: This is a 36-year-old male who presented to our clinic as an adult with a prior history of a meningioma resected few years back. At the time he was evaluated in clinic he presented with a parathyroid adenoma, PTH dependent hypercalcemia and kidney stones. Additionally, within the past three years he was diagnosed with a non-secreting pituitary microadenoma, bilateral cortical adrenal tumors, multiple lipomas, and collagenomas. Given this clinical presentation and history suggestive of MEN1, he met the NCCN V1.2023 criteria for genetic testing of neuroendocrine and adrenal tumors. Hereditary cancer susceptibility testing was performed using the BMGDL (Biochemical and Molecular Genetics Diagnostic Laboratory) 104 gene panel via a blood specimen, and a MEN1 c.1694T>G variant was identified. This variant has not been detected in healthy population databases, nor has it been reported in ClinVar or the medical literature, confirming its novelty. Using computational prediction tools, we have unanimously predicted that it is deleterious. Reference: Mele et al. Phenotypes associated with MEN1 Syndrome: A Focus on Genotype-Phenotype Correlations. Frontiers in Endocrinology 2017. Presentation: Saturday, July 12, 2025
Source: Journal of the Endocrine Society
Authors: Ayoola Olayiwola, Nicholas Borja, Carmen Vanessa Villabona
Language: English
Subfield: Epidemiology
Field: Medicine
Domain: Health Sciences
Open Access status: gold
Estimated APC paid: $3,255
OpenAlex ID: W4415450304
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