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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.

Patient management decisions are based on the independent medical judgment of the physician and molecular test results should be taken into consideration in conjunction with all relevant imaging, clinical findings, patient and family history, as well as patient preference.

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