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甲状腺结节的分子检测:我们现在在哪里?

Molecular testing for thyroid nodules: Where are we now?

机构信息

Thyroid Diseases Unit - Division of Endocrinology, Department of Medicine, Faculty of Medical Sciences of Santa Casa of Sao Paulo, Av. Angélica, 2491 cj 104 - CEP: 01232-011, São Paulo, SP, Brazil.

出版信息

Rev Endocr Metab Disord. 2024 Feb;25(1):149-159. doi: 10.1007/s11154-023-09842-0. Epub 2023 Oct 30.

Abstract

Approximately 25% of the fine needle aspiration samples (FNAB) of thyroid nodules are classified as "indeterminate samples", that means, Bethesda III and IV categories. Until the last decade, most of these cases underwent diagnostic surgery, although only a minority (13-34%) confirmed malignancy postoperatively. In view of this, with the objective of improving the preoperative diagnosis in these cases, the molecular tests emerged, which are validated from the diagnostic point of view, presenting good performance, with good diagnostic accuracy, being able to avoid diagnostic surgeries. With the advancement of knowledge of the role of each of the mutations and gene rearrangements in thyroid oncogenesis, molecular markers have left to play only a diagnostic role and have been gaining more and more space both in defining the prognostic role of the tumor, as well as in the indication of target therapy. Thus, the objective of this review is to show how to use the tool of molecular tests, now commercially available in the world, in the management of indeterminate cytological nodules, assessing the pre-test malignancy risk of the nodule, through clinical, ultrasonographic and cytological characteristics, and decide on the benefit of molecular testing for each patient. In addition, to discuss its new and promising prognostic and therapeutic role in thyroid cancer.

摘要

大约 25%的甲状腺结节细针抽吸样本(FNAB)被归类为“不确定样本”,即 Bethesda III 和 IV 类。直到最近十年,这些病例中的大多数都接受了诊断性手术,尽管只有少数(13-34%)在术后证实为恶性肿瘤。鉴于此,为了提高这些病例的术前诊断水平,分子检测应运而生,从诊断角度来看,这些检测具有良好的性能,具有良好的诊断准确性,能够避免诊断性手术。随着对每种突变和基因重排在甲状腺癌发生中的作用的认识的提高,分子标志物仅具有诊断作用,并且在定义肿瘤的预后作用以及指示靶向治疗方面都越来越有优势。因此,本综述的目的是展示如何在不确定的细胞学结节的管理中使用分子检测这一工具,通过临床、超声和细胞学特征来评估结节的术前恶性风险,并决定对每个患者进行分子检测的益处。此外,还将讨论其在甲状腺癌中的新的有前途的预后和治疗作用。

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