• Jian Deng, Xinyi Liao, and Hong Cao.
• Department of Thyroid Breast Surgery, The Second Affiliated Hospital, Hengyang Medical School, University of South China, Hengyang, Hunan, China.
• Medicine (Baltimore). 2023 Jul 21; 102 (29): e34350e34350.

RationaleHyperparathyroidism 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.Patient ConcernsA 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.DiagnosesAfter multidisciplinary consultation, this patient was diagnosed with MEN-1 syndrome with various original tumors and multiple systemic metastases.InterventionsThe patient underwent parathyroid tumor resection and metastasis biopsy.OutcomesThe patient received denosumab and sorafenib treatment.LessonsAs 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.Copyright © 2023 the Author(s). Published by Wolters Kluwer Health, Inc.

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