Next-generation sequencing in thyroid cancer

Abstract

Next-generation sequencing (NGS) in thyroid cancer allows for simultaneous high-throughput sequencing analysis of variable genetic alterations and provides a comprehensive understanding of tumor biology. In thyroid cancer, NGS offers diagnostic improvements for fine needle aspiration (FNA) cytology of thyroid with indeterminate features. It also contributes to patient management, providing risk stratification of patients based on the risk of malignancy. Furthermore, NGS has been adopted in cancer research. It is used in molecular tumor classification, and molecular prediction of recurrence and metastasis in papillary thyroid carcinoma. This review covers previous NGS analyses in variable types of thyroid cancer, where samples including FNA cytology, fresh frozen tissue, and formalin-fixed, paraffin-embedded tissues were used. This review also focuses on the clinical and research implications of using NGS to study and treat thyroid cancer.

Targeted next‑generation sequencing of cancer‑related genes in thyroid carcinoma: A single institution's experience

“…Next-generation sequencing (NGS) technology enables the simultaneous analysis of hundreds of genes of interest using targeted sequence panels. NGS has been used in molecular tumor classification, and the prediction of recurrence and metastasis in some human cancers (12). NGS data are also useful in patient's management, facilitating risk stratification of patients based on the risk of malignancy.…”

A case of Warthin-like papillary thyroid carcinoma with diffuse sclerosing stroma and a novel RET mutation: a new entity or a combined tumour?

“…Recently, some authors identified a genetic alteration of the MAPK (Mitogen-Activating Protein Kinase) pathway in about 70% of PTC using NGS, detecting either point mutations or structural rearrangements [20]. This technique allowed the recognition of other novel molecular alteration in PTC, as in our case [21].…”

High Genetic Diversity and No Evidence of Clonal Relation in Synchronous Thyroid Carcinomas Associated with Hashimoto’s Thyroiditis: A Next-Generation Sequencing Analysis

“…With the recent developments of genomic DNA testing, a sharpened picture of relevant gene alterations and molecular pathways can also be provided for thyroid malignancies. The availability of next-generation sequencing (NGS) approaches enables the large-scale analysis of cancer genotype from archived pathological material [10,11]. Several well-documented studies using NGS were performed to define the mutational spectrum of thyroid carcinoma, especially focusing on advanced and anaplastic carcinoma cohorts [12,13].…”