alexa Utility of Ultrasound vs. Gene Expression Classifier in
ISSN: 2476-2253

Journal of Cancer Diagnosis
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Research Article

Utility of Ultrasound vs. Gene Expression Classifier in Thyroid Nodules with Atypia of Undetermined Significance

Carmen V Villabona1*, Vineeth Mohan1, Karla M Arce2, Julia Diacovo3, Alisha Aggarwal1, Jessica Betancourt4, Hassan Amer1, Tessey Jose1, Pascual DeSantis1 and Jose Cabral1

1Department of Endocrinology, Cleveland Clinic Florida, 2950 Cleveland Clinic Blvd., Weston, Florida, USA

2Department of Endocrinology, Cleveland Clinic Ohio, 9500 Euclid Avenue, Cleveland, Ohio, USA

3Department of Pathology, Cleveland Clinic Florida, 2950 Cleveland Clinic Blvd., Weston, Florida, USA

4Department of Internal Medicine, Lincoln Medical and Mental Health Center, NewYork, USA

*Corresponding Author:
Carmen V Villabona, MD
Department of Endocrinology
Cleveland Clinic Florida
2950 Cleveland Clinic Blvd
Weston, Florida, 33331, USA
Tel: 3123074488
E-mail: [email protected]

Received date: January 18, 2016 Accepted date: January 30, 2016 Published date: February 06, 2016

Citation: Villabona CV, Mohan V, Arce KM, Diacovo J, Aggarwal A, et al. (2016) Utility of Ultrasound vs. Gene Expression Classifier in Thyroid Nodules with Atypia of Undetermined Significance. J Cancer Diagn 1:103. doi: 10.4172/2476-2253.1000103

Copyright: © 2016 Villabona CV, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.



Introduction: Thyroid nodules with fine needle aspiration (FNA) cytology categorized as atypia of undetermined significance (AUS) often undergo additional diagnostic analysis with the Afirma Gene Expression Classifier (GEC) which classifies these as either high probability of being benign (GEC-B) or suspicious for malignancy (GEC-S). Our goal was to assess the clinical validity and utility of GEC in the evaluation of AUS cytology and evaluate the performance of ultrasonography (USG) for predicting malignancy in this subset.

Methods: We conducted a study with a retrospective cohort of patients from January 2012- January 2014 who had FNA of thyroid nodules >1 cm in size with AUS cytology.

Results: Cleveland Clinic Florida has an overall incidence of AUS of 5%. 119 cases with nodules >1 cm in size were reported as AUS. 48 (40.3%) had a GEC performed after the first FNA (AUS-1) and 27 of these were GEC-S. Of those 27, 21 went for surgery and 14 (66.6%) had thyroid cancer on histopathology. The remaining 71 with AUS-1 were sent for a 2nd FNA:19 nodules were benign and did not undergo further evaluation while the remaining 52 were reported as AUS for the second consecutive time (AUS-2). AUS-2 samples were sent for GEC. Of these 52 AUS-2, 38 (73.1%) were reported as GEC-S. 35 went for surgery and 32 (91.4%) had confirmed malignancy on histopathology. Positive Predictive Value (PPV) was 91.4% for AUS-2 vs. 66.6% for AUS -1. Moreover, AUS-2 nodules that were hypoechoic and solid on USG showed a PPV of 92% for malignancy.

Conclusion: In our practice, the diagnostic accuracy to predict malignancy with GEC for AUS-1 nodules was poor (PPV 66.6%). The PPV of GEC testing was markedly higher at 91.4% performed after 2 consecutive AUS cytologies. AUS-2 nodules that were solid and hypoechoic on USG also had a high probability to be malignant (PPV 92%). We recommend repeat FNA on AUS-1 nodules rather than proceeding directly to GEC testing. Also, we suggest that among AUS-2 nodules, surgery can be recommended when USG shows solid and hypoechoic features with GEC testing reserved for the remainder.


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