In total, 13/85 (15.3%) TSHR mutated ITN with Afirma GSC-S results were found to be malignant.Ĭonclusions: TSHR variants are rare in ITN, and most are categorized as benign under Afirma GSC testing which carries a < 4% risk of malignancy. This prompted a dedicated evaluation of transmembrane codons which revealed a malignancy rate of 10.7% among GSC-S nodules. Among an unselected group of TSHR, absent TSHRpI568T mutations, 16.3% of GSC-S samples were malignant, all but one with codon mutations in the transmembrane subdomains of the TSHR. Among TSHRpI568T samples, 96% were GSC-B and of the GSC-S samples, 21% were malignant. Results: Five percent of the ITN samples harbored an isolated TSHR variant and 5% of those were classified as GSC-S. For GSC-S samples, surgical pathology reports were requested, and the rate of malignancy was calculated. Methods: ITN submitted to Veracyte for Afirma GSC testing between October 2017 and February 2022 were analyzed for TSHR variants and rates of GSC-B and GSC-S were calculated based upon BIII or IV cytology, by TSHR variant codon amino acid (AA) substitution, age, and gender. Finally, we seek to assess the risk of malignancy (ROM) of this group of TSHR mutated ITN in the GSC-S category. Objectives: To evaluate the frequency and risk of malignancy of TSHRpI568T mutations discovered in indeterminate thyroid nodules (ITN) within the Veracyte CLIA laboratory undergoing Afirma ® Genomic Sequencing Classifier (GSC) testing, and to evaluate a broader cohort of TSHR variants and their categorization as Afirma GSC benign (GSC-B) or suspicious (GSC-S). 11Department of Endocrine Surgery, Endocrinology and Metabolism Institute, Cleveland Clinic, Cleveland, OH, United States.10Department of Clinical Affairs, Veracyte, South San Francisco, CA, United States.9Department of Medical Affairs, Veracyte, South San Francisco, CA, United States.88Department of Research and Development, Veracyte, South San Francisco, CA, United States.7Department of Pathology, Mid-Atlantic Permanente Medical Group, Rockville, MD, United States.
6Endocrinology Center of Lake Cumberland, Somerset, KY, United States.5Lake Cumberland Regional Hospital, Somerset, KY, United States.4Wexner Medical Center, The Ohio State University, Columbus, OH, United States.3Department of Surgery, UT Southwestern Medical Center, Dallas, TX, United States.2Department of Surgery, The James Comprehensive Cancer Center, The Ohio State University, Columbus, OH, United States.1Department of Endocrinology, Endocrinology and Metabolism Institute, Cleveland Clinic, Cleveland, OH, United States.Phay 2, Shelby Holt 3, Benjamin O’Donnell 4, Jay Nguyen 5, Dennis Joseph 6, Anthony Chi 7, Shuyang Wu 8, Yangyang Hao 8, Jing Huang 8, Joshua P.
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