U tân sinh đa tuyến nội tiết týp 1 với đột biến gen MEN1: Báo cáo trường hợp lâm sàng

Abstract

Multiple endocrine neoplasia type 1 is a rare syndrome, defined as the existence of at least 2 of the 3 main tumor types: Pituitary adenoma, parathyroid glands and pancreatic islets. In addition to the above tumors, patients may have tumors in other locations such as adrenal tumors, thymus tumors, esophageal tumors, stomach tumors... This syndrome is easy to miss due to the presence of many tumors, patients can be detected in many different clinical departments. We describe our experience in the diagnosis and management of a case of multiple endocrine neoplasia type 1. Clinical case of a 56-year-old female patient admitted to the hospital because of a large pituitary adenoma; The patient continued to have other tumors detected: Surgical neck tumor with primary hyperparathyroidism, pancreatic neuroendocrine tumor, bilateral adrenal adenoma, liver tumor. The patient's genetic testing results identified a pathogenic mutation on the MEN1 gene on chromosome 11 (autosomal dominant). Finally, the patient was successfully treated with neuroendocrine pancreatic tumor surgery, left adrenalectomy, and medical treatment.