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.
Highlights
An understanding of the molecular mechanisms of tumor formation is mandatory for accurate diagnoses and personalized treatments
Performance of Next-generation sequencing (NGS) test in cancer detection among nodules with follicular or oncocytic neoplasm (FN/SFN) cytology: sensitivity 90%, specificity 93%, positive predictive value (PPV) 83%, negative predictive value (NPV) 96%, accuracy 92%
Performance of NGS test in cancer detection among nodules with indeterminate cytology: sensitivity 71%, specificity 89%, PPV 62%, NPV 92%, accuracy 85%
Summary
An understanding of the molecular mechanisms of tumor formation is mandatory for accurate diagnoses and personalized treatments. NGS application in the diagnosis of indeterminate cytology A majority of previous studies using NGS in thyroid cancer analyzed variable specimen sample types and histologic subtypes (Table 1). NGS assays have been used in the diagnosis of indeterminate cytology of thyroid nodules. FNA has some limitations, since 20–30% of FNA samples fall into categories of indeterminate cytology. These categories include atypia of undetermined significance/follicular lesion of undetermined significance (AUS/FLUS, category III); follicular or oncocytic (Hurthle cell) neoplasm/suspicious for a follicular or oncocytic (Hurthle cell) neoplasm (FN/SFN, category IV); and suspicious for malignant cells (SUSP) [4,5,6,7,8]. 1. 70% of classic PTCs harboring mutations: BRAF (59%) > PIK3A (11%) > TP53 (7%) > NRAS (4%)
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
