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近几十年甲状腺癌的发病率呈明显上升趋势,对其发病机制及诊断治疗的研究需求迫切.目前甲状腺细针穿刺细胞学活检是公认的术前评估甲状腺结节良恶性灵敏度和特异度最高的方法,但仍有10％ ～ 40％的甲状腺结节通过穿刺活检不能确定性质.因此,从基因分子水平寻找高相关性的肿瘤标志物变得尤为重要.BRAF基因突变是甲状腺癌研究的热点,研究结果表明,该基因事件在甲状腺癌尤其是乳头状癌的发生、发展中占有重要地位,联合检测BRAF基因突变能进一步提高诊断灵敏度,对甲状腺癌诊断、分层、治疗及预后评估具有重要指导意义.在治疗层面上,基因标靶的出现使甲状腺癌的分子治疗成为可能,这一突破为那些甲状腺癌传统治疗方式效果不佳的患者带来了希望.目前多种与BRAF基因相关的分子治疗药物已进入临床试验阶段.相信,BRAF基因与甲状腺癌关系研究的深入将为甲状腺癌的诊治提供一种新的可能.“,”It is noteworthy that the incidence of thyroid cancer around the world has increased significantly in recent decades,raising an imperative need to research its pathogenesis,diagnosis and treatment.Up to now,fine needle aspiration biopsy (FNAB) of thyroid has been acknowledged to discriminate benign from malignant thyroid nodules with the highest sensitivity and specificity.However,10％ to 40％ thyroid nodules cannot be discriminated by FNAB.Therefore,it is vitally important to look for highly-correlated tumor makers in molecule level.BRAF mutation is a focus in thyroid cancer research,and some studies showed that this mutation is essential to the onset and development of thyroid cancer,especially papillary thyroid cancer.Joint detection of BRAF mutation could improve diagnostic sensitivity of thyroid cancer,which is crucial for thyroid cancer diagnosis and classification.As for treatment,the discovery of target gene enabled molecule therapy for thyroid cancer,raising hopes for patients with thyroid cancer that refractory to conventional treatments.Currently,many molecule therapeutics relating to BRAF has already undergone clinical trials.It is believed that further research on BRAF-thyroid cancer relationship could create a new field for diagnosis and treatment of thyroid cancer,and set a mode for discovering others molecule markers.