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甲状腺结节的诊断不明确:从细胞学检查到分子检测

Indeterminate Thyroid Nodules: From Cytology to Molecular Testing.

作者信息

Vignali Paola, Macerola Elisabetta, Poma Anello Marcello, Sparavelli Rebecca, Basolo Fulvio

机构信息

Department of Surgical, Medical, Molecular Pathology and Critical Area, University of Pisa, Via Savi 10, 56126 Pisa, Italy.

出版信息

Diagnostics (Basel). 2023 Sep 20;13(18):3008. doi: 10.3390/diagnostics13183008.

Abstract

Thyroid cancer is the most common malignancy of the endocrine system. Fine-needle aspiration (FNA) biopsy of thyroid nodules has become the gold standard procedure, in terms of cost and efficacy, for guiding clinicians towards appropriate patients' management. One challenge for cytopathologists is to accurately classify cytological specimens as benign or malignant based on cytomorphological features. In fact, with a frequency ranging from 10% to 30%, nodules are diagnosed as indeterminate. In recent years, the mutational landscape of thyroid tumors has been extensively described, and two molecular profiles have been identified: -like (, and mutations; mutations; mutation; and and fusions) and -like (including mutation and and fusions). The purpose of this review is to discuss the latest molecular findings in the context of indeterminate thyroid nodules, highlighting the role of molecular tests in patients' management.

摘要

甲状腺癌是内分泌系统最常见的恶性肿瘤。就成本和疗效而言,甲状腺结节的细针穿刺(FNA)活检已成为指导临床医生对患者进行适当管理的金标准程序。细胞病理学家面临的一个挑战是根据细胞形态学特征准确地将细胞学标本分类为良性或恶性。事实上,有10%至30%的结节被诊断为不确定。近年来,甲状腺肿瘤的突变图谱已被广泛描述,并且已鉴定出两种分子谱:-样(、和突变;突变;突变;以及和融合)和-样(包括突变以及和融合)。本综述的目的是在不确定甲状腺结节的背景下讨论最新的分子发现,强调分子检测在患者管理中的作用。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/14ec/10528553/c4af24940b30/diagnostics-13-03008-g001.jpg

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