MON-686 Incretin Therapy In Patients With Neurofibromatosis And Potential Clinical Manifestations Of Men Syndromes

Abstract Disclosure: H. Mejia: None. V. Udayakumar: None. G. Iacobellis: None. R.J. Galindo: None. N. Punjabi: None. E. Bernal- Mizrachi: None. R.T. Varghese: None. Background/Objective Multiple endocrine neoplasia (MEN) syndromes are rare genetic conditions with unclear prevalence. GLP-1 receptor agonists are effective for obesity but may pose risks in MEN due to potential tumor growth. This case explores the challenges for use of GLP-1 therapy in people with NF1 mutations. Case Description A 46-year-old man with class 3 obesity (BMI 53), hypertension, prediabetes, neurofibromatosis type 1(NF1), Obstructive sleep apnea and a nonfunctional pituitary adenoma presented for obesity management. He was ineligible for bariatric surgery due to his NF1, and expressed interest in GLP-1 therapy for weight loss. Physical examination showed multiple neurofibromas on the face, neck, and chest. Laboratory results were positive for NF1 mutation, but otherwise largely within reference range, including normal plasma and 24 hr urinary metanephrines, cortisol, and glucose tolerance tests, with no family history of MEN syndromes or medullary thyroid cancer. After discussing the risks and benefits, genetic testing was recommended before considering GLP-1 treatment to ensure patient safety. Discussion: GLP-1 receptor agonists offer significant benefits for obesity, diabetes, and related conditions. However, their use in MEN syndromes is controversial due to potential tumor growth stimulation, particularly with MTC. Further NF1 is associated with several endocrine tumors including NF-1 tumors including pheochromocytomas, paragangliomas, pancreatic neuroendocrine tumors, Gastrointestinal Stromal Tumors and Carcinoid. This case underscores the clinical challenge of balancing treatment efficacy with safety in genetically predisposed patients. NF1 is reported to be a driver mutation of MTC in RET negative tumors. The lack of established guidelines on genetic testing or GLP-1 use in MEN-associated conditions complicates decision-making. The patient's history of NF1 and clinical presentation warranted a careful approach, highlighting the need for individualized management strategies. Conclusion: This case illustrates the complexities of GLP-1 therapy in patients with NF1 mutation and potential MEN syndromes. Given the absence of clear guidelines and the potential risk of tumor growth, clinicians should adopt a cautious approach, incorporating genetic testing when appropriate. Further research is essential to develop evidence-based guidelines for GLP-1 use in this unique population, promoting safe and effective treatment strategies that support personalized care. Presentation: Monday, July 14, 2025

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Journal
Journal of the Endocrine Society
Published
2025-10-01
DOI
https://doi.org/10.1210/jendso/bvaf149.025
Primary Topic
Neurofibromatosis and Schwannoma Cases
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article
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article

MON-686 Incretin Therapy In Patients With Neurofibromatosis And Potential Clinical Manifestations Of Men Syndromes

Gianluca Iacobellis, Rodolfo Javier Galindo, Ron Thomas Varghese, Naresh M. Punjabi et al.
Journal of the Endocrine Society
Neurofibromatosis and Schwannoma Cases
article

MON-686 Incretin Therapy In Patients With Neurofibromatosis And Potential Clinical Manifestations Of Men Syndromes

Gianluca Iacobellis, Rodolfo Javier Galindo, Ron Thomas Varghese, Naresh M. Punjabi, Hery Mejia, Ernesto Bernal Mizrachi, Varsha Udayakumar
article en

Abstract

Abstract Disclosure: H. Mejia: None. V. Udayakumar: None. G. Iacobellis: None. R.J. Galindo: None. N. Punjabi: None. E. Bernal- Mizrachi: None. R.T. Varghese: None. Background/Objective Multiple endocrine neoplasia (MEN) syndromes are rare genetic conditions with unclear prevalence. GLP-1 receptor agonists are effective for obesity but may pose risks in MEN due to potential tumor growth. This case explores the challenges for use of GLP-1 therapy in people with NF1 mutations. Case Description A 46-year-old man with class 3 obesity (BMI 53), hypertension, prediabetes, neurofibromatosis type 1(NF1), Obstructive sleep apnea and a nonfunctional pituitary adenoma presented for obesity management. He was ineligible for bariatric surgery due to his NF1, and expressed interest in GLP-1 therapy for weight loss. Physical examination showed multiple neurofibromas on the face, neck, and chest. Laboratory results were positive for NF1 mutation, but otherwise largely within reference range, including normal plasma and 24 hr urinary metanephrines, cortisol, and glucose tolerance tests, with no family history of MEN syndromes or medullary thyroid cancer. After discussing the risks and benefits, genetic testing was recommended before considering GLP-1 treatment to ensure patient safety. Discussion: GLP-1 receptor agonists offer significant benefits for obesity, diabetes, and related conditions. However, their use in MEN syndromes is controversial due to potential tumor growth stimulation, particularly with MTC. Further NF1 is associated with several endocrine tumors including NF-1 tumors including pheochromocytomas, paragangliomas, pancreatic neuroendocrine tumors, Gastrointestinal Stromal Tumors and Carcinoid. This case underscores the clinical challenge of balancing treatment efficacy with safety in genetically predisposed patients. NF1 is reported to be a driver mutation of MTC in RET negative tumors. The lack of established guidelines on genetic testing or GLP-1 use in MEN-associated conditions complicates decision-making. The patient's history of NF1 and clinical presentation warranted a careful approach, highlighting the need for individualized management strategies. Conclusion: This case illustrates the complexities of GLP-1 therapy in patients with NF1 mutation and potential MEN syndromes. Given the absence of clear guidelines and the potential risk of tumor growth, clinicians should adopt a cautious approach, incorporating genetic testing when appropriate. Further research is essential to develop evidence-based guidelines for GLP-1 use in this unique population, promoting safe and effective treatment strategies that support personalized care. Presentation: Monday, July 14, 2025

Journal of the Endocrine SocietyVol. 9(Supplement_1)
University of Miami (US), Jackson Memorial Hospital (US)
Openalex Percentile: Top 57%
Neurofibromatosis and Schwannoma Cases
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