分子检测技术在甲状腺结节诊治中的价值

Value of molecular testing technique in diagnosis and management of thyroid nodule

超声和超声引导下穿刺活检是甲状腺癌的主要诊断方式。超声诊断与病理诊断的符合率为60％～90％，不同医院甚至不同医师差异较大。目前各国指南推荐以细针穿刺细胞学检查（FNA）作为评估甲状腺结节的金标准，但仍存在20％～25％的FNA细胞学诊断不能确定性质，无法避免FNA技术上的局限性。从分子生物学层面对甲状腺癌发病机制的研究以及分子诊断技术的快速发展，使甲状腺癌在诊断、预后和治疗决策方面也取得了显著进展。这些技术的发展将弥补FNA诊断的不足，指导术前风险分层，优化初始治疗方案，并在综合考虑肿瘤治疗与生存质量之间取得平衡。

Thyroid cancer is one of the few cancer disease has been epidemic with rising incidence worldwide. The main diagnostic methods are ultrasound and ultrasound-guided fine needle aspiration （FNA）. The coincidence rate of ultrasound and pathology diagnosis ranges from 60% to 90%. There are significant difference between different doctors and hospitals. The current guidelines recommend FNA as the gold standard to evaluate nodules. However, there are 20%--25% cytologically indeterminate thyroid nodules, which likely cannot be discriminated due to technical limitations of FNA. With the significant progress of the pathogenesis of thyroid cancer based upon molecular biology aspects and rapid development of molecular testing techniques, the diagnosis, prognosis and treatment have gotten remarkable improvement. The development of the technologies is expected to make up for the deficiency of FNA, tailor the preoperative risk stratification, optimize the initial treatment options, and then balance oncologic concerns with quality of life considerations.