Multifocal Insulinoma as the Unique Presenting Feature of Multiple Endocrine Neoplasia Type 1 in an Adolescent
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Key Takeaways
- Multifocal pancreatic neuroendocrine tumors in adolescents should prompt genetic testing for MEN1, even without family history.
- De novo MEN1 mutations can present with insulinoma as the sole initial manifestation before other endocrine abnormalities appear.
- Advanced imaging like DOTATATE PET is superior to conventional studies for detecting multiple small pancreatic neuroendocrine lesions.
- Each tumor in multifocal pancreatic NETs may express different hormones; only one may be functionally active as an insulinoma.
- Early MEN1 diagnosis enables appropriate surgical planning and lifelong surveillance for associated endocrine tumors.
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Have you ever heard of a de novo MEN1 mutation? I hadn't until I read this fascinating case record. Hi, I'm Sophia Schermerhorn from Cincinnati Children's, and I'm here to share this case report. This case describes a teenager who presented with recurrent hypoglycemia and what was initially thought to be a straightforward insulanoma. Initial imaging studies failed to identify a lesion, so that prompted a dodo taste scan, which showed not just one but multiple pancreatic tumors. And during surgery, 4 distinct lesions were identified and resected. Now here's where it gets interesting. Each tumor expressed a different hormone on pathology, with only one of them behaving like a true insulinoma. Genetic testing later confirmed a de novo MEN1 mutation, even though he had no family history and he had no other MEN1 associated endocrine problems. The key takeaway is that in pediatric patients, multifocal pancreatic neuroendocrine tumors should raise concern for a possible MEN1. Early recognition can both guide treatment and long-term surveillance.