Medullary thyroid carcinoma (MTC) is a malignant tumor that arises from parafollicular C cells, which are responsible for producing calcitonin. The majority (75%) of MTC cases are sporadic forms, while the remaining (25%) have a hereditary component. In these hereditary cases, MTC can occur in conjunction with other endocrine disorders (i.e., pheochromocytoma) or as an isolated condition known as familial medullary thyroid carcinoma. The primary genetic mutation associated with the development of MTC, regardless of its hereditary or sporadic nature, is a point mutation in the RET gene. Evaluation of serum calcitonin levels represents the most reliable and sensitive marker for both the initial diagnosis and the postsurgical monitoring of MTC. Unfortunately, most patients do not achieve normalization of postsurgical serum calcitonin (CT) levels after surgery. Therefore, there is a need to find new biomarkers to be used with serum CT in order to increase test sensitivity and specificity. In this review, we summarize the literature from 2010 to 2023 to review the role of circulating tumor cells, cell-free DNA, and miRNA and their application in diagnosis, outcome of MTC, and response to treatments.
甲状腺髓样癌（MTC）是一种起源于滤泡旁C细胞的恶性肿瘤，该细胞负责产生降钙素。大多数（75%）MTC病例为散发型，其余（25%）具有遗传因素。在这些遗传性病例中，MTC可与其他内分泌疾病（如嗜铬细胞瘤）并发，或作为独立的家族性甲状腺髓样癌发生。无论其遗传性或散发性质，与MTC发展相关的主要基因突变是RET基因的点突变。血清降钙素水平评估是MTC初始诊断和术后监测最可靠、最敏感的指标。遗憾的是，大多数患者术后血清降钙素（CT）水平未能恢复正常。因此，需要寻找新的生物标志物与血清CT联合使用，以提高检测的敏感性和特异性。本综述汇总了2010年至2023年的文献，旨在探讨循环肿瘤细胞、游离DNA和microRNA的作用及其在MTC诊断、预后和治疗反应评估中的应用。
肿瘤(癌症)患者之家