Xu JL, Dong S, Sun LL, Zhu JX, Liu J. Multiple endocrine neoplasia type 1 combined with thyroid neoplasm: A case report and review of literatures. World J Clin Cases 2022; 10(3): 1032-1040 [PMID: 35127917 DOI: 10.12998/wjcc.v10.i3.1032]
Corresponding Author of This Article
Jia Liu, MD, PhD, Surgeon, Department of Thyroid Surgery, The First Hospital of Jilin University, No. 71 Xinmin Street, Changchun 130012, Jilin Province, China. liu_jia@jlu.edu.cn
Research Domain of This Article
Endocrinology & Metabolism
Article-Type of This Article
Case Report
Open-Access Policy of This Article
This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (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/
World J Clin Cases. Jan 21, 2022; 10(3): 1032-1040 Published online Jan 21, 2022. doi: 10.12998/wjcc.v10.i3.1032
Multiple endocrine neoplasia type 1 combined with thyroid neoplasm: A case report and review of literatures
Jia-Lu Xu, Su Dong, Le-Le Sun, Jin-Xin Zhu, Jia Liu
Jia-Lu Xu, Le-Le Sun, Jin-Xin Zhu, Department ofThyroid Surgery, The First Hospital of Jilin University, Changchun 130021, Jilin Province, China
Su Dong, Department of Anesthesia, The First Hospital of Jilin University, Changchun 130021, Jilin Province, China
Jia Liu, Department of Thyroid Surgery, The First Hospital of Jilin University, Changchun 130012, Jilin Province, China
Author contributions: Liu J and Xu JL performed the surgery, reviewed the literature and contributed to manuscript drafting; Dong S reviewed the literature and was responsible for the revision of the manuscript for important intellectual content; Sun LL and Zhu JX analyzed and interpreted the imaging findings; all authors issued final approval for the version to be submitted.
Informed consent statement: Informed written consent was obtained from the patient for publication of this report and any accompanying images.
Conflict-of-interest statement: The authors declare that they 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: Jia Liu, MD, PhD, Surgeon, Department of Thyroid Surgery, The First Hospital of Jilin University, No. 71 Xinmin Street, Changchun 130012, Jilin Province, China. liu_jia@jlu.edu.cn
Received: June 3, 2021 Peer-review started: June 3, 2021 First decision: June 25, 2021 Revised: July 7, 2021 Accepted: December 22, 2021 Article in press: December 22, 2021 Published online: January 21, 2022
Abstract
BACKGROUND
Multiple endocrine neoplasia type 1 (MEN1) is a rare hereditary tumor syndrome inherited in an autosomal dominant manner and presents mostly as parathyroid, endocrine pancreas (such as gastrinoma) and anterior pituitary tumors. At present, papillary thyroid carcinoma (PTC) and nodular goiter are not regarded as components of MEN1.
CASE SUMMARY
A 35-year-old woman presented with MEN1 accompanied by coinstantaneous PTC and nodular goiter. The pathological diagnosis was PTC with cervical lymph node metastasis, nodular goiter, parathyroid cyst and adenomatoid hyperplasia. Genetic testing was performed and a MEN1 gene mutation was detected. The patient underwent unilateral lobectomy of the thyroid gland and surgical removal of the parathyroid tumors. At 18 mo of follow-up, ultrasonic examination of the neck showed no abnormality. Serum calcium and parathyroid hormone levels were normal. No new MEN1-associated tumors were detected.
CONCLUSION
The role of inactivating mutations of MEN1 gene in tumorigenesis of PTC and/or nodular goiter remains to be determined by more case reports and further research.
Core Tip: Multiple endocrine neoplasia type 1 (MEN1) is a rare hereditary tumor syndrome inherited in an autosomal dominant manner and presents mostly as parathyroid, endocrine pancreas and anterior pituitary tumors. We here report a case of MEN1 combined with papillary thyroid carcinoma (PTC) and nodular goiter, and review the literature. The role of inactivating mutations of MEN1 gene in tumorigenesis of PTC and/or nodular goiter is still controversial. There may be a potential correlation between MEN1 syndrome and papillary thyroid carcinoma/ nodular goiter.
