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评估B-RAF突变检测作为甲状腺传统细针穿刺辅助手段的效用。

Assessing the utility of a mutational assay for B-RAF as an adjunct to conventional fine needle aspiration of the thyroid gland.

作者信息

Tetzlaff Michael T, LiVolsi Virginia, Baloch Zubair W

机构信息

Department of Pathology and Laboratory Medicine, University of Pennsylvania Medical Center, 3400 Spruce Street, Philadelphia, PA 19104-4283, USA.

出版信息

Adv Anat Pathol. 2006 Sep;13(5):228-37. doi: 10.1097/01.pap.0000213044.23823.d3.

Abstract

Thyroid carcinoma is the most common endocrine malignancy; it is typified by a number of classical genomic insults, which tend to cluster with the discrete histologic subtypes. The most common of these is a mutation in B-RAF, which is present in approximately 44% (29% to 83%) of cases. In this review we have assessed the potential utility of a molecular test for somatically acquired mutations in B-RAF using thyroid malignancy as a model system according to 3 fundamental questions: would a test enhance our ability to distinguish benign from malignant, would a test unveil a risk factor not otherwise known, and would detecting a mutation enable a therapeutic option specific to those patients who carry the mutation?

摘要

甲状腺癌是最常见的内分泌系统恶性肿瘤;它以一些典型的基因组损伤为特征,这些损伤往往与不同的组织学亚型聚集在一起。其中最常见的是B-RAF基因的突变,约44%(29%至83%)的病例中存在该突变。在本综述中,我们以甲状腺恶性肿瘤作为模型系统,根据三个基本问题评估了针对B-RAF基因体细胞获得性突变进行分子检测的潜在效用:该检测能否增强我们区分良性与恶性的能力,能否揭示一个未知的风险因素,以及检测到突变是否能为携带该突变的患者提供特定的治疗选择?

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