新一代测序在甲状腺肿瘤诊断中的应用及其临床意义

Application and significance of nextgeneration sequencing in the diagnosis and treatment of thyroid carcinoma

摘要:

新一代测序技术（nextgeneration sequencing，NGS）的应用不仅可以对甲状腺癌(thyriod carcinoma，TC)遗传变异进行高通量分析，也为全面理解甲状腺相关肿瘤生物学特性提供可能，为具有不确定特征的甲状腺结节细针穿刺细胞学检查(fine needle aspiration，FNA)提供诊断改进意见，并有助于患者管理，依据肿瘤的恶性程度为患者提供危险分层。此外，NGS已应用于癌症的全面研究，如用于肿瘤分子分类、甲状腺癌复发转移的分子预测等。本综述涵盖了迄今为止源于不同类型甲状腺癌组织的NGS分析，其中包括FNA细胞学检查、新鲜冷冻组织和石蜡包埋组织。此外，本文还阐述了使用NGS研究和治疗甲状腺癌的实验研究及临床意义。

关键词:新一代测序|细胞学|甲状腺癌

Abstract:

The application of nextgeneration sequencing (NGS) not only enables highthroughput analysis of genetic variation in thyroid carcinoma, but also provides a comprehensive understanding of the biological characteristics of thyroidassociated tumors. NGS provides diagnostic suggestions for fine needle aspiration (FNA) cytology of thyroid nodules with indeterminate characteristics. It can also facilitate patient management by providing risk stratification according to the degree of malignancy. Furthermore, NGS has been applied in cancer research, e.g., molecular tumor classification, molecular prediction of recurrence and metastasis in papillary thyroid carcinoma. This review covers NGS analyses on different types of thyroid cancer tissues, including fresh frozen tissue, FNA tissue, and paraffinembedded tissue. Additionally, this article expounds the significances of NGS in the treatment and experiment research of thyroid carcinoma.

Key words:Nextgeneration sequencing| Cytology| Thyroid carcinoma