PDF(Pubmed)
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.
摘要：
一个男人,在他30多岁的时候,有肥胖和甲状腺功能减退症病史，计划开始服用新的胰高血糖素样肽-1（GLP-1）激动剂来减轻体重。由于这些药物与C细胞增生有关，在开始用药前检查降钙素水平作为评估.这返回到131pg/mL（正常上限<10pg/mL），随后的癌胚抗原为5.2ng/mL（ref<3ng/mL）。进行甲状腺超声检查并显示双侧亚厘米结节。全甲状腺切除术后，最终病理显示双侧0.8cm甲状腺髓样癌。基因检测显示NM_020975.6：c.1826G>A;p.Cys609Tyr.生殖系RET突变,确认诊断为多发性内分泌肿瘤2综合征。患者从治疗中恢复良好。他的一级亲属也接受了基因检测。该病例代表在开始胰高血糖素样肽-1激动剂之前对家族性多发性内分泌瘤2A的令人惊讶的诊断。
