Trimboli Pierpaolo, Giovanella Luca, Crescenzi Anna, Romanelli Francesco, Valabrega Stefano, Spriano Giuseppe, Cremonini Nadia, Guglielmi Rinaldo, Papini Enrico
Section of Endocrinology and Diabetology, Ospedale Israelitico, Rome, Italy.
Head Neck. 2014 Aug;36(8):1216-23. doi: 10.1002/hed.23449. Epub 2014 Mar 4.
Since its first description in 1951, a timely diagnosis of medullary thyroid carcinoma (MTC) may represent a diagnostic challenge in clinical practice. Several contributions have been addressed to the treatment and follow-up of MTC, but review articles focused on the diagnostic problems of this cancer in clinical practice are sparse. As a delayed diagnosis and an inadequate initial treatment may severely affect the prognosis of this thyroid malignancy, the appropriate use and the correct interpretation of the available diagnostic tools for MTC are of crucial importance. The purpose of the present article is to provide an easy-to-use guide reviewing the main issues of MTC diagnosis: (1) basal serum calcitonin; (2) stimulated serum calcitonin; (3) additional serum markers for MTC; (4) ultrasound and other imaging techniques; (5) fine-needle aspiration (FNA) cytology; (6) calcitonin measurement on FNA washout; (7) rearranged during transfection (RET) mutations; and (8) scope of the problem.
自1951年首次被描述以来，髓样甲状腺癌（MTC）的及时诊断在临床实践中可能是一项诊断挑战。已有多项研究致力于MTC的治疗和随访，但专注于该癌症临床诊断问题的综述文章却很少。由于延迟诊断和初始治疗不当可能严重影响这种甲状腺恶性肿瘤的预后，因此正确使用和解读现有的MTC诊断工具至关重要。本文的目的是提供一份易于使用的指南，回顾MTC诊断的主要问题：（1）基础血清降钙素；（2）刺激后血清降钙素；（3）MTC的其他血清标志物；（4）超声和其他成像技术；（5）细针穿刺（FNA）细胞学检查；（6）FNA洗脱液中的降钙素测量；（7）转染重排（RET）突变；以及（8）问题范围。
