Published online Nov 6, 2024. doi: 10.12998/wjcc.v12.i31.6436
Revised: July 26, 2024
Accepted: August 1, 2024
Published online: November 6, 2024
Processing time: 104 Days and 23.4 Hours
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.
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.