甲状腺乳头状癌中BRAF^V600E基因突变的临床意义

目的总结BRAFV600E基因突变对甲状腺乳头状癌（papillary thyroid cancer,PTC）辅助诊断、治疗及预后评估的意义。方法收集近年来国内外有关BRAFV600E基因突变与PTC形成与进展关系的文献并作综述。结果 BRAFV600E基因突变是PTC组织中最常见的突变类型,是促使PTC形成与进展的重要分子改变,其与PTC的高侵袭性及复发,甚至与预后不良均有密切关系。检测甲状腺结节中的BRAFV600E基因突变,不仅能辅助术前细针穿刺细胞学检查（fine needle aspiration cytology,FNAC）对良恶性结节的鉴别诊断,同时能提高FNAC对PTC的诊断准确率,而且对PTC复发危险程度的分级、手术方式及随访计划的制定均具有重要的指导价值。结论 PTC中BRAFV600E基因突变较常见,该基因突变对PTC的诊断及预后评估均具有重要意义。

The Clinical Signifi cance of BRAF^V600E Mutation in Papillary Thyroid Cancer

Objective To summarize the significance of BRAFV600 E mutation for the diagnosis, treatment, and prognosis of papillary thyroid cancer（PTC）. Methods Related literatures which were published in recent years for exploring the relationship of BRAFV600 E mutation and PTC were collected and reviewed. Results The BRAFV600 Emutation was the most common mutant type in PTC, which played an important role in the oncogenesis and development of PTC. In addition, this type of mutation was closely associated with aggressive behavior and poor prognosis of PTC.The BRAFV600 E testing in fine needle aspiration（FNA） samples of thyroid nodule not only facilitated to improve the diagnostic accuracy of PTC, but also helped ensure the recurrence risk classification, selection of surgical treatment, and follow-up planning. Conclusion BRAFV600 E mutation was prevalent in PTC and had important significance both in diagnosis and prognostic evaluation of PTC.