Diagnostic performance of next-generation sequencing and genetic profiling in thyroid nodules from a single center in China.

ABSTRACT:

Objective

The data regarding the mutation landscape in Chinese patients with thyroid cancer are limited. The diagnostic performance of thyroid nodules by fine-needle aspiration (FNA) cytology needs optimization, especially in indeterminate nodules.

Methods

A total of 1039 FNA and surgical resection samples tested using the targeted multigene next-generation sequencing (NGS) panel were retrospectively collected. The features of gene alterations in different thyroid tumors were analyzed, and the diagnostic efficacy was evaluated.

Results

Among 1039 samples, there were 822 FNA and 217 surgical FFPE samples. Among 207 malignant thyroid resections, a total of 181 out of 193 papillary thyroid carcinomas (PTCs) were NGS-positive (93.8%), with a high prevalence of BRAF mutati

SUBMITTER: Ren M 

PROVIDER: S-EPMC9175606 | biostudies-literature | 2022 May

REPOSITORIES: biostudies-literature