Abstract: The present disclosure relates to a novel thyroid nodule diagnostic biomarker and use thereof, and more specifically to an mRNA biomarker or a combination of mRNA biomarkers that are capable of diagnosing non-invasive follicular thyroid neoplasm with papillary-like nuclear features (NIFTP) among thyroid nodules with high accuracy and sensitivity compared to benign and malignant tumors. In the present disclosure, it was confirmed that the expression levels of OCLN, ZNF423, LYG1 and AQP5 are associated with the onset or aggravation of non-invasive follicular thyroid neoplasm with papillary-like nuclear features (NIFTP). Accordingly, the present disclosure provides OCLN, ZNF423, LYG1 and AQP5 genes as diagnostic biomarkers for non-invasive follicular thyroid neoplasm with papillary-like nuclear features (NIFTP).

Abstract: The present invention relates to: a biomarker composition for diagnosing or predicting the prognosis of thyroid cancer, comprising a preparation capable of detecting a mutation in a PLEKHS1 promoter gene; and a use thereof. The biomarker composition for diagnosing or predicting the prognosis of thyroid cancer of the present invention confirms whether a mutation is present in a PLEKHS1 promoter gene, and thus can provide information needed for diagnosing metastatic (distant metastatic) differentiated thyroid cancer, and also confirms whether a mutation is present in BRAF, TERT promoter, three types of RAS and a TP53 gene in addition to the PLEKHS1 promoter gene, and thus, with respect to radioactive iodine therapy response and survival, can classify the prognosis of a metastatic differentiated thyroid cancer patient into one of three prognosis groups, and predict the same.

Abstract: A method for analyzing the methylation level of a specific CpG site in genomic DNA and a composition suitable to use in the method are provided. The method and composition can provide information useful for diagnosing thyroid cancer or determining the prognosis of patients with thyroid cancer. By using the method and the composition, thyroid cancer can be easily and accurately diagnosed from biological samples at a low cost.