Editorial
Copyright ©The Author(s) 2024. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. Nov 6, 2024; 12(31): 6436-6440
Published online Nov 6, 2024. doi: 10.12998/wjcc.v12.i31.6436
Molecular diagnostic approaches in detecting rearranged during transfection oncogene mutations in multiple endocrine neoplasia type 2
Sambasivam Gopinath, Velmurugan Ramaiyan
Sambasivam Gopinath, Velmurugan Ramaiyan, Department of Pharmacy, Saveetha College of Pharmacy, Saveetha Institute of Medical and Technical Sciences, Chennai 602105, India
Author contributions: Gopinath S designed the overall concept and outline of the manuscript; Velmurugan R contributed to the discussion and design of the manuscript; Gopinath S and Velmurugan R contributed to the writing and editing of the manuscript, and review of the literature; all authors have read and approved the final manuscript.
Conflict-of-interest statement: All the authors report no relevant conflicts of interest for this article.
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: Velmurugan Ramaiyan, PhD, Professor, Department of Pharmacy, Saveetha College of Pharmacy, Saveetha Institute of Medical and Technical Sciences, Saveetha Nagar, Chennai Bengaluru, NH 48, Chennai 602105, India. ramaiyan.dr@gmail.com
Received: May 29, 2024
Revised: July 26, 2024
Accepted: August 1, 2024
Published online: November 6, 2024
Processing time: 104 Days and 23.4 Hours
Abstract

Different types of neuroendocrine cancer, including medullary thyroid cancer (MTC) and thyroid C-cell hyperplasia, are part of multiple endocrine neoplasia type 2 (MEN2). A proto-oncogene mutation of the rearranged during transfection (RET) gene changes the way that receptor tyrosine kinases work. Multiple endocrine neoplasia, a pathological condition, involves these kinases. When the RET protooncogene changes, it can cause endocrine adenomas and hyperplasia to happen at the same time or one after the other. Pheochromocytoma, medullary thyroid carcinoma, and hyperparathyroidism, alone or in combination, are present in MEN2A patients. Some patients may also have skin lichen amyloidosis or Hirschsprung's disease. Patients with MEN2A often present with MTC. MTC is aggressive and has the worst prognosis, as most patients exhibit lymph node metastasis. MTC is one of the important causes of death in patients with MEN2A. RET mutation analysis aids in identifying MEN2A symptoms and monitoring levels of calcium, thyroid hormones, calcitonin, normetanephrine, fractionated metanephrines, and parathyroid hormone. The earlier diagnosis of MTC significantly improves survival and prompts better management of MEN2A. In this editorial, we will discuss the significance of molecular diagnostic approaches in detecting RET oncogene mutations in MEN2A.

Keywords: Multiple endocrine neoplasia type 2; Medullary thyroid cancer; Pheochromocytoma; Thyroidectomy; Rearranged during transfection

Core Tip: In this editorial, we provide a commentary on a case report. The authors aimed to study the rearranged during transfection (RET) gene mutations, clinical characteristics, and treatment strategies in a family with multiple endocrine neoplasia type 2 (MEN2). Although RET gene mutation increases the risk of endocrine tumors and hyperplasia, a lack of proper diagnosis and molecular testing can undermine the management of patients with MEN2. In this editorial article, we focus on the significance of molecular testing in MEN2.