降钙素阴性甲状腺髓样癌的诊断与治疗进展

Advances in the diagnosis and treatment of calcitonin-negative medullary thyroid carcinoma

摘要:

降钙素阴性甲状腺髓样癌（CNMTC）是一种少见的临床亚型，因术前血清降钙素水平正常，易导致漏诊或误诊。CNMTC的发病机制尚不完全明确，可能涉及分泌机制异常、测定假阴性等多种因素。目前，超声引导下细针穿刺细胞学检查、血清CEA与胃泌素释放肽前体水平、RET基因检测等在CNMTC的诊断中具有一定价值。治疗上，手术仍为首选方式，辅助以必要的新辅助治疗。本文通过系统回顾近年来相关文献，梳理CNMTC的发病机制、诊断路径、治疗策略及预后特点，以期为临床识别和管理该病提供参考。

Abstract:

Calcitonin-negative medullary thyroid carcinoma (CNMTC) is a rare subtype of medullary thyroid carcinoma, characterized by normal serum calcitonin levels, which often leads to misdiagnosis or missed diagnosis. The pathogenesis of CNMTC remains unclear and may involve impaired secretion mechanisms or assay-related false negatives. Diagnostic approaches include ultrasound-guided fine needle aspiration cytology, serum CEA and ProGRP measurements, and RET gene testing. Surgical resection remains the mainstay of treatment, while neoadjuvant therapy may be considered in selected cases. This review summarizes recent advances in the understanding, diagnosis, treatment, and prognosis of CNMTC, aiming to provide clinical guidance for better management of this challenging condition.