甲状腺滤泡性肿瘤是细针穿刺（Fine Needle Aspiration, FNA）细胞学诊断的灰色地带。术后病理证实此类细胞学诊断既包括良性的腺瘤、结节性甲状腺肿腺瘤样增生；又包括滤泡亚型的乳头状癌和滤泡癌等恶性疾病。对滤泡性肿瘤良恶性的再分类是国际性学术难题，迄今尚无有效的鉴别诊断方法。本研究利用激光显微切割联合全外显子测序技术在中国人群“滤泡性肿瘤”术后石蜡标本中筛选可能的诊断分子谱，并借助二代测序平台在甲状腺细针穿刺样本中对候选分子诊断谱进行验证，从而鉴定出最佳分子诊断模式，进而用于中国人群“滤泡性肿瘤”患者的再分类，为“滤泡性肿瘤”患者的临床管理提供依据。

Thyroid follicular tumors are the grey areas of fine needle aspiration (FNA) cytology. Postoperative pathology confirmed that such cytological diagnosis included benign adenoma, nodular goiter adenomatoid hyperplasia, follicular subtype of papillary cancer and follicular cancer. It is an international academic problem to identify the benign and malignant follicular tumors, but so far there is no effective differential diagnosis method. Laser capture microdissection and whole exome sequencing are used to screen molecular markers for the Chinese thyroid carcinoma with follicular neoplasm cytology. Then next-generation sequencing (NGS) is performed on fine needle aspiration specimens to identify the candidate markers. Finally, the most useful panel of markers is ascertained for nodules with “follicular neoplasm” cytology and should facilitate the optimal management of these patients in China.