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©The Author(s) 2024. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. May 26, 2024; 12(15): 2627-2635
Published online May 26, 2024. doi: 10.12998/wjcc.v12.i15.2627
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, 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 by The 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
Revised: March 10, 2024
Accepted: April 9, 2024
Published online: May 26, 2024
Processing time: 109 Days and 17.8 Hours
Core Tip
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.