Case Report
Copyright ©The Author(s) 2020. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. Jun 26, 2020; 8(12): 2647-2654
Published online Jun 26, 2020. doi: 10.12998/wjcc.v8.i12.2647
Comprehensive treatment of rare multiple endocrine neoplasia type 1: A case report
Chen-Hui Ma, Huai-Bin Guo, Xin-Yan Pan, Wan-Xing Zhang
Chen-Hui Ma, Huai-Bin Guo, Xin-Yan Pan, Wan-Xing Zhang, Department of Hepatobiliary, Hebei General Hospital, Shijiazhuang 050017, Hebei Province, China
Chen-Hui Ma, Graduate School of North China University of Science and Technology, Tangshan 050051, Hebei Province, China
Author contributions: Ma CH and Zhang WX were the patient’s attending physicians, reviewed the literature, and contributed to manuscript drafting and editing; Guo HB and Pan XY collected the record and contributed to manuscript drafting; all authors issued final approval for the version to be submitted.
Informed consent statement: Written informed consent was obtained from the patient.
Conflict-of-interest statement: We declare that we have no conflict of interest.
CARE Checklist (2016) statement: The authors have read the CARE Checklist (2016), and the manuscript was prepared and revised according to the CARE Checklist (2016).
Open-Access: This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/
Corresponding author: Wan-Xing Zhang, MD, Chief Doctor, Professor, Department of Hepatobiliary, Hebei General Hospital, No. 348, Heping West Road, Xinhua District, Shijiazhuang 050017, Hebei Province, China. zhangwx12@hotmail.com
Received: January 14, 2020
Peer-review started: January 14, 2020
First decision: April 8, 2020
Revised: April 25, 2020
Accepted: May 29, 2020
Article in press: May 29, 2020
Published online: June 26, 2020
Abstract
BACKGROUND

Multiple endocrine neoplasia type 1 (MEN1) is a rare hereditary disorder caused by mutations of the MEN1 gene. It is characterized by hyperparathyroidism and involves the pancreas, anterior pituitary, duodenum, and adrenal gland. Here, we report a 40-year-old male patient with MEN1 who first manifested as thymic carcinoid, then primary hyperparathyroidism and prolactinoma, and a decade later pancreatic neuroendocrine tumor.

CASE SUMMARY

The patient underwent a thymectomy because of the thymic carcinoid 10 years prior and a prolactinoma resection 2 years prior. His sister suffered from prolactinoma. His parents displayed a typical triad of amenorrhea, galactorrhea, and infertility. Computed tomography revealed a strong signal in the upper portion of the left lobes and posterior portion of the right lobes of the thyroid and irregular soft tissue densities of the pancreatic body. Positron emission tomography/computed tomography imaging further showed strong 18F-flurodeoxyglucose uptake in the tail of the pancreatic body and segment IV of the liver. The patient underwent pancreatic body tail resection, pancreatic head mass enucleation, and ultrasound-guided radio-frequency ablation for liver cancer. Pathology results reported neuroendocrine tumor grade 2. Whole exome sequencing revealed a verified pathogenic mutation c.378G>A (p.Trp126*) in the MEN1 gene. The diagnosis of MEN1 was confirmed. At the 1.5-year follow-up, the patient appeared healthy without any sign of reoccurrence.

CONCLUSION

The present case may add some insight into the diagnosis and treatment of patients with MEN1.

Keywords: Multiple endocrine neoplasia type 1, Thymic carcinoid, Neuroendocrine tumor, Case report, Pancreas, Tumor

Core tip: Genetic screening is recommended in patients with a family history of multiple endocrine neoplasia type 1 who present with primary hyperparathyroidism and pituitary tumors or gastrointestinal neuroendocrine tumors.