Development and Analytical Validation of an Expanded Mutation Detection Panel for Next-Generation Sequencing of Thyroid Nodule Aspirates

Molecular analysis is used to evaluate the risk of malignancy for thyroid fine needle aspirates, identified as indeterminate by microscopic cytology, based on the detection of various oncogenic DNA mutations and fusion transcripts, or upon the use of various mRNAs or microRNA-based classifier algorithms. Our approach has been to use a combination test utilizing the detection of oncogenic mutations/ fusion transcripts and a micro-RNA expression –based classifier algorithm. To improve the performance of the combination test, the next-generation sequencing (NGS)-based mutational panel was expanded from the detection of five oncogenes to 10 oncogenes and tumor suppressor genes and the detection of fusion transcripts was increased from six t o 38.

Source: Journal of Molecular Diagnostics - December 18, 2019 Category: Pathology Authors: Kenny Kwabena Ablordeppey, Venkata Arun Timmaraju, Joanna Wanmin Song-Yang, Sharon Yaqoob, Christina Narick, Alidad Mireskandari, Sydney David Finkelstein, Gyanendra Kumar Tags: Regular article Source Type: research