Molecular testing for thyroid nodules: Where are we now?

IF 6.9 2区 医学 Q1 ENDOCRINOLOGY & METABOLISM Reviews in Endocrine & Metabolic Disorders Pub Date : 2024-02-01 Epub Date: 2023-10-30 DOI:10.1007/s11154-023-09842-0
Carolina Ferraz
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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.

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甲状腺结节的分子检测:我们现在在哪里?
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%)在术后确认为恶性肿瘤。有鉴于此,为了提高这些病例的术前诊断,出现了分子测试,这些测试从诊断角度进行了验证,表现出良好的性能,具有良好的诊断准确性,能够避免诊断手术。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进步,分子标记物只起到诊断作用,并且在确定肿瘤的预后作用以及靶向治疗的指征方面获得了越来越多的空间。因此,本综述的目的是展示如何使用目前在世界上商业上可用的分子检测工具来管理不确定的细胞学结节,通过临床、超声和细胞学特征评估结节的测试前恶性肿瘤风险,并决定分子检测对每个患者的益处。此外,探讨其在甲状腺癌症中新的和有前景的预后和治疗作用。
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来源期刊
Reviews in Endocrine & Metabolic Disorders
Reviews in Endocrine & Metabolic Disorders 医学-内分泌学与代谢
CiteScore
14.70
自引率
1.20%
发文量
75
审稿时长
>12 weeks
期刊介绍: Reviews in Endocrine and Metabolic Disorders is an international journal dedicated to the field of endocrinology and metabolism. It aims to provide the latest advancements in this rapidly advancing field to students, clinicians, and researchers. Unlike other journals, each quarterly issue of this review journal focuses on a specific topic and features ten to twelve articles written by world leaders in the field. These articles provide brief overviews of the latest developments, offering insights into both the basic aspects of the disease and its clinical implications. This format allows individuals in all areas of the field, including students, academic clinicians, and practicing clinicians, to understand the disease process and apply their knowledge to their specific areas of interest. The journal also includes selected readings and other essential references to encourage further in-depth exploration of specific topics.
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