背景:甲状旁腺功能亢进是由甲状旁腺肿瘤合并胃肠胰腺肿瘤和垂体瘤引起的,常见于多发性内分泌肿瘤1综合征(MEN-1)患者。由于其主要致病因素涉及基因突变,它可以引起各种不同的临床症状。然而,基因检测结果阴性的病例和伴有转移的多个非功能性恶性神经内分泌肿瘤(NETs)相对罕见。
方法:一名33岁男子因甲状旁腺功能亢进入院。影像学检查显示甲状旁腺有多个结节,胰腺,胸腺,和肾上腺,和肺部的多发性转移,肝脏,胸腰椎,还有纵隔淋巴结.
方法:经过多学科咨询,该患者被诊断为MEN-1综合征,伴有各种原发肿瘤和多发全身转移.
方法:患者行甲状旁腺肿瘤切除及转移活检。
结果:患者接受了地诺单抗和索拉非尼治疗。
结论:作为常染色体显性遗传病,MEN-1患者表现为甲状旁腺增生,胰腺和肠道肿瘤,垂体瘤,等等,是由基因突变引起的.这些病人会有甲状旁腺功能亢进,低血糖,胃溃疡,和胃肠道疾病。然而,一些MEN-1综合征患者不能通过基因检测进行诊断,并且同时存在多个无功能NETs伴全身转移.这增加了诊断和后续治疗的难度。
BACKGROUND: Hyperparathyroidism is caused by parathyroid tumors combined with gastroenteropancreatic tumors and pituitary tumors, which is common in patients with multiple endocrine neoplasia 1 syndrome (MEN-1). As its main pathogenic factor involves genetic mutations, it can cause a variety of different clinical symptoms. However, cases with negative genetic testing results and multiple nonfunctional malignant neuroendocrine tumors (NETs) with metastasis are relatively rare.
METHODS: A 33-year-old man was admitted to the hospital for hyperparathyroidism. Imaging examination revealed multiple nodules in the parathyroid gland, pancreas, thymus, and adrenal gland, and multiple metastases to the lung, liver, thoracolumbar, as well as mediastinal lymph nodes.
METHODS: After multidisciplinary consultation, this patient was diagnosed with MEN-1 syndrome with various original tumors and multiple systemic metastases.
METHODS: The patient underwent parathyroid tumor resection and metastasis biopsy.
RESULTS: The patient received denosumab and sorafenib treatment.
CONCLUSIONS: As an autosomal dominant hereditary disease, MEN-1 patients present with parathyroid hyperplasia, pancreatic and intestinal tumors, pituitary tumors, and so on, which are caused by genetic mutations. These patients would have hyperparathyroidism, hypoglycemia, gastric ulcer, and gastrointestinal diseases. However, some patients with MEN-1 syndrome cannot be diagnosed by genetic testing and simultaneously present with multiple nonfunctional NETs with systemic metastasis. This increases the difficulty of diagnosis and the subsequent treatment.