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Incidental detection of multiple endocrine neoplasia and medullary thyroid carcinoma before starting GLP-1 agonist: A
Katie Glasgow1, Victoria Jiminez2, Natalie Garcia3
1Department of Surgery, University of Utah, USA.
Abstract:
A man, in his 30s, with a history of obesity and hypothyroidism planned to begin taking a new Glucagon-like peptide-1 (GLP-1) agonist for weight loss. As these medications have been associated with C-cell hyperplasia, a calcitonin level was checked as evaluation prior to starting the drug. This returned at 131 pg/mL (upper limit of normal<10 pg/mL), and a subsequent carcinoembryonic antigen was 5.2 ng/mL (ref<3 ng/mL). Thyroid ultrasound was performed and demonstrated bilateral subcentimeter nodules. After total thyroidectomy, final pathology demonstrated bilateral 0.8 cm medullary thyroid carcinoma. Genetic testing revealed a NM_020975.6: c.1826G > A; p.Cys609Tyr. germline RET mutation, confirming the diagnosis of multiple endocrine neoplasia 2 syndrome. The patient recovered well from treatment. His first-degree relatives also underwent genetic testing. This case represents a surprising diagnosis of familial multiple endocrine neoplasia 2A prior to starting a Glucagon-like peptide-1 agonist.
Insights
A man on weight loss medication was unexpectedly diagnosed with medullary thyroid carcinoma and Multiple Endocrine Neoplasia 2A due to elevated calcitonin levels, prompting family screening.
Area of Science:
- Endocrinology
- Oncology
- Genetics
Background:
- Glucagon-like peptide-1 (GLP-1) agonists are increasingly used for weight loss.
- GLP-1 agonists have been associated with C-cell hyperplasia, necessitating pre-treatment evaluation.
- Routine screening for thyroid abnormalities is crucial in patients with risk factors.
Observation:
- A patient with obesity and hypothyroidism planned to initiate a GLP-1 agonist.
- Elevated calcitonin (131 pg/mL) and carcinoembryonic antigen (5.2 ng/mL) levels were detected.
- Thyroid ultrasound revealed bilateral subcentimeter nodules.
Findings:
- Total thyroidectomy confirmed bilateral 0.8 cm medullary thyroid carcinoma.
- Germline RET mutation (NM_020975.6: c.1826G>A; p.Cys609Tyr) confirmed Multiple Endocrine Neoplasia 2A (MEN2A).
- This case highlights a surprising diagnosis of familial MEN2A discovered prior to GLP-1 agonist initiation.
Implications:
- Early detection of MEN2A can prevent advanced disease through timely intervention.
- Genetic testing of first-degree relatives is essential for identifying at-risk individuals.
- This case underscores the importance of thorough pre-treatment evaluations for GLP-1 agonists in specific patient populations.
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