Zhang HF, Huang SL, Wang WL, Zhou YQ, Jiang J, Dai ZJ. C634Y mutation in RET-induced multiple endocrine neoplasia type 2A: A case report. World J Clin Cases 2024; 12(15): 2627-2635 [PMID: 38817239 DOI: 10.12998/wjcc.v12.i15.2627]
Corresponding Author of This Article
Yu-Qing Zhou, MMed, Chief, Professor, Department of Endocrinology, Dongguan Hospital of Guangzhou University of Chinese Medicine, No. 3, Dongcheng Section, Songshanhu Avenue, Dongcheng District, Dongguan 523003, Guangdong Province, China. 1411396541@qq.com
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. May 26, 2024; 12(15): 2627-2635 Published online May 26, 2024. doi: 10.12998/wjcc.v12.i15.2627
C634Y mutation in RET-induced multiple endocrine neoplasia type 2A: A case report
Hui-Fen Zhang, Shu-Ling Huang, Wen-Li Wang, Yu-Qing Zhou, Jun Jiang, Zhuo-Jin Dai
Hui-Fen Zhang, Shu-Ling Huang, Wen-Li Wang, Yu-Qing Zhou, Department of Endocrinology, Dongguan Hospital of Guangzhou University of Chinese Medicine, Dongguan 523003, Guangdong Province, China
Jun Jiang, Department of Science and Technology Services, Beijing Macro and Micro Test Co., Ltd., Beijing 100318, China
Zhuo-Jin Dai, The First Clinical Medical College, Guangdong Medical University, Zhanjiang 524023, Guangdong Province, China
Author contributions: Zhang HF and Huang SL wrote the original draft; Zhang HF, Huang SL, Wang WL, Jiang J, and Dai ZJ reviewed and edited the manuscript; Zhou YQ contributed to the methodology and supervision; All authors read and approved the final manuscript.
Supported byThe Finance Bureau of Dongguan City, Guangdong Province.
Informed consent statement: All study participants, or their legal guardians, provided informed written consent prior to study enrollment.
Conflict-of-interest statement: The authors declare that they have no conflict of interest to disclose.
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: https://creativecommons.org/licenses/by-nc/4.0/
Corresponding author: Yu-Qing Zhou, MMed, Chief, Professor, Department of Endocrinology, Dongguan Hospital of Guangzhou University of Chinese Medicine, No. 3, Dongcheng Section, Songshanhu Avenue, Dongcheng District, Dongguan 523003, Guangdong Province, China. 1411396541@qq.com
Received: January 25, 2024 Revised: March 10, 2024 Accepted: April 9, 2024 Published online: May 26, 2024 Processing time: 109 Days and 17.8 Hours
Abstract
BACKGROUND
Multiple endocrine neoplasia type 2 (MEN2) is a rare, autosomal dominant endocrine disease. Currently, the RET proto-oncogene is the only gene implicated in MEN2A pathogenesis. Once an RET carrier is detected, family members should be screened to enable early detection of medullary thyroid carcinoma, pheochromocytoma, and hyperparatitity. Among these, medullary thyroid carcinoma is the main factor responsible for patient mortality. Accordingly, delineating strategies to inform clinical follow-up and treatment plans based on genes is paramount for clinical practitioners.
CASE SUMMARY
Herein, we present RET proto-oncogene mutations, clinical characteristics, and treatment strategies in a family with MEN2A. A family study was conducted on patients diagnosed with MEN2A. DNA was extracted from the peripheral blood of family members, and first-generation exon sequencing of the RET proto-oncogene was conducted. The C634Y mutation was identified in three family members spanning three generations. Two patients were sequentially diagnosed with pheochromocytomas and bilateral medullary thyroid carcinomas. A 9-year-old child harboring the gene mutation was diagnosed with medullary thyroid carcinoma. Surgical resection of the tumors was performed. All family members were advised to undergo complete genetic testing related to the C634Y mutation, and the corresponding treatments administered based on test results and associated clinical guidelines.
CONCLUSION
Advancements in MEN2A research are important for familial management, assessment of medullary thyroid cancer invasive risk, and deciding surgical timing.
Core Tip: Gene sequencing was performed on an adult Asian female patient with bilateral pheochromocytoma and thyroid carcinoma. A mutation, characterized by a nucleotide (c.T1901A) and amino acid (p.Cys634Tyr) change, was identified, supporting multiple endocrine neoplasia type 2A development. Genetic screening of family members revealed the patient’s father and son are carriers of the mutation. Clinical follow-up direction and treatment plan were guided by genetic testing. The patient and her son were diagnosed with orthotopic medullary thyroid carcinoma, facilitating timely and early detection in the early stage of cancer and potentially improving the survival rate of patients.
