摘要甲状腺癌是内分泌系统最常见的一类恶性肿瘤,术前诊断主要依赖于甲状腺细针穿刺细胞学检查( fine-needle aspiration biopsy,FNAB).然而,即使具备卓越的穿刺和病理阅片技术,仍有部分细胞学检查模棱两可,使得结节的性质无法确诊.分子诊断技术的进步,为甲状腺癌的早期诊断与合理治疗提供了有力帮助.一些如BRAF、RET、PAX8/PPARγ突变基因对于甲状腺乳头状癌、滤泡状癌和甲状腺髓样癌的诊断、预后甚至选择合适的治疗方案均具有关键作用.尽管存在诸如增加诊断费用,特异性有待提高,部分肿瘤仍缺乏特异性的标志物等不足,但从美国94届内分泌年会中相应报告及其被关注的程度看,分子诊断技术在甲状腺癌的诊断和治疗上必将扮演越来越重要的角色.

abstractsFine-needle aspiration biopsy is the mainstay of preoperative diagnosis of thyroid cancer which is the most common type of endocrine malignancy.However,some aspirates yield indeterminate cytology and there is no clear recommendation for the management on these situations.The use of emerging molecular markers such as BRAF、RET、PAX8/PPARγ will likely improve the diagnosis of malignancy in thyroid nodules and facilitate more individualized therapeutic options and postoperative management.Some markers have been extensively characterized and introduced into clinical practice.