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甲状腺乳头状癌中的BRAF突变

BRAF mutation in papillary thyroid carcinoma.

作者信息

Li Xinying, Abdel-Mageed Asim B, Kandil Emad

机构信息

Department of Surgery, Tulane University, School of medicine New Orleans, LA, USA.

出版信息

Int J Clin Exp Med. 2012;5(4):310-5. Epub 2012 Aug 22.

Abstract

BRAF mutation is the most common genetic alternation in thyroid cancer, particularly in papillary thyroid cancer (PTC). Excessive activation of BRAF/MAPK signaling pathway due to BRAF mutation plays a central role in the tumorigenesis and development of PTC. The association of BRAF mutation with poor clinicopathological characteristics of PTC further demonstrated the importance of the BRAF mutation alternation in PTC. Detection of BRAF mutation on FNA specimen before surgery is recommended as a useful diagnostic marker and prognostic indicator for PTC, and thus influences surgeon's decision on management of PTC. Recent studies have focused on inhibition of BRAF activation and several small molecules have been developed as targeting therapy.

摘要

BRAF突变是甲状腺癌中最常见的基因改变,尤其是在乳头状甲状腺癌(PTC)中。BRAF突变导致的BRAF/MAPK信号通路过度激活在PTC的肿瘤发生和发展中起核心作用。BRAF突变与PTC不良临床病理特征的关联进一步证明了BRAF突变改变在PTC中的重要性。建议在手术前对FNA标本进行BRAF突变检测,作为PTC的有用诊断标志物和预后指标,从而影响外科医生对PTC的治疗决策。最近的研究集中在抑制BRAF激活,并且已经开发了几种小分子作为靶向治疗药物。

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