Molecular diagnostic approaches in detecting rearranged during transfection oncogene mutations in multiple endocrine neoplasia type 2

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.