D'Cruz Anil K, Vaish Richa, Vaidya Abhishek, Nixon Iain J, Williams Michelle D, Vander Poorten Vincent, López Fernando, Angelos Peter, Shaha Ashok R, Khafif Avi, Skalova Alena, Rinaldo Alessandra, Hunt Jennifer L, Ferlito Alfio
Head Neck Services, Tata Memorial Hospital, Parel, Mumbai, 400012, India.
National Cancer Institute, Nagpur, India.
Eur Arch Otorhinolaryngol. 2018 Jun;275(6):1375-1384. doi: 10.1007/s00405-018-4944-1. Epub 2018 Apr 6.
Thyroid nodules are of common occurrence in the general population. About a fourth of these nodules are indeterminate on aspiration cytology placing many a patient at risk of unwanted surgery. The purpose of this review is to discuss various molecular markers described to date and place their role in proper perspective. This review covers the fundamental role of the signaling pathways and genetic changes involved in thyroid carcinogenesis. The current literature on the prognostic significance of these markers is also described.
PubMed was used to search relevant articles. The key terms "thyroid nodules", "thyroid cancer papillary", "carcinoma papillary follicular", "carcinoma papillary", "adenocarcinoma follicular" were searched in MeSH, and "molecular markers", "molecular testing", mutation, BRAF, RAS, RET/PTC, PAX 8, miRNA, NIFTP in title and abstract fields. Multiple combinations were done and a group of experts in the subject from the International Head and Neck Scientific Group extracted the relevant articles and formulated the review.
There has been considerable progress in the understanding of thyroid carcinogenesis and the emergence of numerous molecular markers in the recent years with potential to be used in the diagnostic algorithm of these nodules. However, their precise role in routine clinical practice continues to be a contentious issue. Majority of the studies in this context are retrospective and impact of these mutations is not independent of other prognostic factors making the interpretation difficult.
The prevalence of these mutations in thyroid nodule is high and it is a continuously evolving field. Clinicians should stay informed as recommendation on the use of these markers is expected to evolve.
甲状腺结节在普通人群中很常见。其中约四分之一的结节在细针穿刺细胞学检查中结果不确定,这使许多患者面临不必要手术的风险。本综述的目的是讨论迄今为止描述的各种分子标志物,并正确看待它们的作用。本综述涵盖了甲状腺癌发生过程中涉及的信号通路和基因变化的基本作用。还介绍了关于这些标志物预后意义的当前文献。
使用PubMed搜索相关文章。在医学主题词表(MeSH)中搜索关键词“甲状腺结节”“甲状腺乳头状癌”“滤泡状乳头状癌”“乳头状癌”“滤泡性腺癌”,并在标题和摘要字段中搜索“分子标志物”“分子检测”“突变”“BRAF”“RAS”“RET/PTC”“PAX 8”“miRNA”“NIFTP”。进行了多种组合,来自国际头颈科学小组的一组该领域专家提取了相关文章并撰写了本综述。
近年来,在甲状腺癌发生机制的理解方面取得了相当大的进展,出现了许多有潜力用于这些结节诊断算法的分子标志物。然而,它们在常规临床实践中的精确作用仍然是一个有争议的问题。在这方面的大多数研究都是回顾性的,这些突变的影响并非独立于其他预后因素,这使得解释变得困难。
这些突变在甲状腺结节中的发生率很高,这是一个不断发展的领域。临床医生应随时了解最新情况,因为预计关于这些标志物使用的建议将会不断演变。