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临床医生信息:评估甲状腺结节细针抽吸标本的商业化分子诊断检测。

Information for clinicians: commercially available molecular diagnosis testing in the evaluation of thyroid nodule fine-needle aspiration specimens.

机构信息

Department of Endocrinology, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania 15213, USA.

出版信息

Thyroid. 2013 Feb;23(2):131-4. doi: 10.1089/thy.2012.0320. Epub 2012 Nov 27.

Abstract

TSH receptor mRNA reverse transcription-polymerase chain reaction, the Veracyte and Asuragen commercial methods, and the noncommercial use of BRAF, RAS, RET/PTC, and PAX8/PPARγ testing have promising roles in the diagnosis and treatment of patients with nodular thyroid disease and thyroid cancer. However, at this time, experience with these molecular methods remains limited, and no test has perfect sensitivity and specificity. Peer-reviewed data evaluating the diagnostic performance of these tests are increasingly available. The American Thyroid Association (ATA) feels that until an expert consensus review of existing data (now underway by the ATA Guidelines Task Force) can be completed, no evidence-based recommendation for or against the use of these methods can be made. Clinicians are therefore advised to consider the use of these genetic diagnosis methods with appropriate caution, and to remain cognizant of the limitations of the data supporting their use. Patients who are interested in the use of these tests in their own care should discuss them thoroughly with their care providers. Until evidence-based recommendations are available, determining whether or not the limited data available support the use of these methods should be considered on a case-by-case basis.

摘要

促甲状腺激素受体 mRNA 逆转录-聚合酶链反应、Veracyte 和 Asuragen 的商业方法,以及 BRAF、RAS、RET/PTC 和 PAX8/PPARγ 检测的非商业用途,在结节性甲状腺疾病和甲状腺癌患者的诊断和治疗中具有有前景的作用。然而,目前这些分子方法的经验仍然有限,没有一种检测方法具有完美的灵敏度和特异性。越来越多的同行评审数据评估了这些检测的诊断性能。美国甲状腺协会(ATA)认为,在对现有数据进行专家共识审查(现在由 ATA 指南工作组进行)完成之前,不能对这些方法的使用提出基于证据的建议或反对。因此,建议临床医生谨慎考虑使用这些基因诊断方法,并意识到支持其使用的数据存在局限性。有兴趣在自己的治疗中使用这些检测的患者应与他们的护理提供者进行彻底讨论。在有基于证据的建议之前,应根据具体情况考虑现有有限数据是否支持使用这些方法。

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