Gopinath Sambasivam, Ramaiyan Velmurugan
Department of Pharmacy, Saveetha College of Pharmacy, Saveetha Institute of Medical and Technical Sciences, Chennai 602105, India.
World J Clin Cases. 2024 Nov 6;12(31):6436-6440. doi: 10.12998/wjcc.v12.i31.6436.
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 () gene changes the way that receptor tyrosine kinases work. Multiple endocrine neoplasia, a pathological condition, involves these kinases. When the 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 oncogene mutations in MEN2A.
不同类型的神经内分泌癌，包括甲状腺髓样癌（MTC）和甲状腺C细胞增生，是2型多发性内分泌腺瘤病（MEN2）的一部分。转染期间重排（RET）基因的原癌基因突变改变了受体酪氨酸激酶的工作方式。多发性内分泌腺瘤病作为一种病理状况，涉及这些激酶。当原癌基因发生变化时，可导致内分泌腺瘤和增生同时或相继发生。MEN2A患者存在嗜铬细胞瘤、甲状腺髓样癌和甲状旁腺功能亢进，可单独出现或合并出现。一些患者还可能有皮肤苔藓样淀粉样变或先天性巨结肠病。MEN2A患者常表现为甲状腺髓样癌。甲状腺髓样癌具有侵袭性，预后最差，因为大多数患者会出现淋巴结转移。甲状腺髓样癌是MEN2A患者重要的死亡原因之一。RET突变分析有助于识别MEN2A症状，并监测钙、甲状腺激素、降钙素、去甲肾上腺素、甲氧基肾上腺素和甲状旁腺激素的水平。甲状腺髓样癌的早期诊断可显著提高生存率，并促进对MEN2A的更好管理。在这篇社论中，我们将讨论分子诊断方法在检测MEN2A中原癌基因突变的意义。
