Multiple endocrine adenomatosis type 1 with initial pituitary tumor: report of 4 cases and literature review

Abstract

Objective To summarize the clinical characteristics of 4 patients with multiple endocrine neoplasia type 1 (MEN1) who were firstly diagnosed with pituitary adenomas. Methods Four patients with MEN1 admitted to our hospital from October 2016 to December 2020 due to pituitary tumor or after pituitary tumor surgery were subjected in this study. The clinical manifestations, biochemical indexes, imaging data, results of postoperative immunohistochemical staining and gene testing were collected and retrospectively analyzed. And relevant literature was reviewed as well. Results The 4 patients were 1 male and 3 females, and aged from 23 to 64 years. And among them, ① 3 cases were macroadenomas (diameter ≥10 mm), including 2 cases of growth hormone (GH)+prolactin (PRL) mixed tumors and 1 case of GH tumor after confirmed by immunohistochemical staining; the other 1 case was microadenoma (diameter < 10 mm), and clinically diagnosed with nonfunctional tumor. ②All patients were complicated with hyperparathyroidism (PTH). In addition, 1 case also had pancreatic neuroendocrine tumor (G1), 1 had both G1 and bilateral adrenal masses, and another 1 with pancreatic head mass. ③Two patients underwent whole exon sequencing, and 2 heterozygous mutations of MEN1 gene were detected: c.249_252delGTCT and c.1277delG, with the latter one being firstly reported. Conclusion In MEN1 patients with initial pituitary tumor, functioning macroadenomas is common, should receive routine endocrine hormone. And suspected patients biochemical and imaging examinations, as well as reasonable gene detection and supplemented multidisciplinary diagnosis and treatment, which are helpful to early detection and treatment of the disease.

Keywords

• multiple endocrine neoplasia type 1
• pituitary adenoma
• gene detection
• mixed tumors