Development and Validation of a Molecular Diagnostic Test for Medullary Thyroid Carcinoma Using NGS Mutation Detection and microRNA Expression Profiling

AACE Annual Meeting 2020 (online)

Medullary thyroid carcinoma (MTC) is a rare, aggressive, neuroendocrine cancer with a generally poor prognosis. Since the cytological analysis of MTC from FNA can often be challenging, molecular testing can serve as an important adjunct for pre-operative diagnosis of MTC. Our approach to molecular diagnostics for MTC involves the use of a combination of NGS-based oncogenic panel, ThyGeNEXT®, and a miRNA-based classifier test2, ThyraMIR®. ThyGeNEXT® detects the presence of DNA mutations and RNA fusions commonly found in thyroid cancers and in MTC. The ThyraMIR® test, on the other hand, determines the risk of malignancy using a classifier-based algorithm. ThyraMIR® data can be reanalyzed using pair-wise analysis of the Ct values of individual miRNAs to determine the presence or absence of MTC markers in FNA samples. Here, we report the development and validation of a molecular test based on NGS mutational analysis and miRNA expression profiling for detecting MTC in thyroid nodule FNAs.

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