# Incidental detection of multiple endocrine neoplasia and medullary thyroid carcinoma before starting GLP-1 agonist: A case report

**Authors:** Katie Glasgow, Victoria Jiminez, Natalie Garcia, Andrea Gillis

PMC · DOI: 10.1016/j.heliyon.2024.e33420 · Heliyon · 2024-06-22

## TL;DR

A man was diagnosed with a rare inherited endocrine condition before starting a weight-loss medication, leading to thyroid cancer surgery.

## Contribution

Highlights the importance of screening for endocrine neoplasia before GLP-1 agonist use.

## Key findings

- Elevated calcitonin and CEA levels led to the detection of medullary thyroid carcinoma.
- Genetic testing confirmed a germline RET mutation consistent with multiple endocrine neoplasia 2A.
- Early diagnosis allowed successful treatment and family screening.

## 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.

## Linked entities

- **Genes:** RET (ret proto-oncogene) [NCBI Gene 5979]
- **Diseases:** medullary thyroid carcinoma (MONDO:0007958), hypothyroidism (MONDO:0005420), obesity (MONDO:0011122)

## Full-text entities

- **Genes:** RET (ret proto-oncogene) [NCBI Gene 5979] {aka CDHF12, CDHR16, HSCR1, MEN2A, MEN2B, MTC1}, GCG (glucagon) [NCBI Gene 2641] {aka GLP-1, GLP1, GLP2, GRPP}
- **Diseases:** obesity (MESH:D009765), medullary thyroid carcinoma (MESH:C536914), familial multiple endocrine neoplasia 2A (MESH:D018813), C-cell hyperplasia (MESH:D006965), NM_020975.6 (MESH:C536816), weight loss (MESH:D015431), multiple endocrine neoplasia (MESH:D009377), hypothyroidism (MESH:D007037)
- **Species:** Homo sapiens (human, species) [taxon 9606]
- **Mutations:** c.1826G > A

## Full text

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## References

20 references — full list in the complete paper: https://tomesphere.com/paper/PMC11250875/full.md

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Source: https://tomesphere.com/paper/PMC11250875