Next-Generation Sequencing Identifies Gene Mutations That Are Predictive of Malignancy in Residual Needle Rinses Collected From Fine-Needle Aspirations of Thyroid Nodules

• DOI: 10.5858/arpa.2017-0136-oa
• Publication Date: 2017-05-24T19:13:13Z
• Authors: Maren Y. Fuller; Dina Mody; April Hull; Kristi Pepper; Heather Hendrickson; Randall Olsen
• Keywords: Thyroid Nodules

- Thyroid nodules have a prevalence of approximately 70% in adults. Fine-needle aspiration (FNA) is minimally invasive, cost-effective, standard method to collect tissue from thyroid for cytologic examination. However, 15% FNA specimens cannot be unambiguously diagnosed as benign or malignant.- To investigate whether clinically actionable data can obtained using next-generation sequencing residual needle rinse material.- A total 24 with malignant (n = 6), indeterminate 9), 9) diagnoses were analyzed our clinical molecular diagnostics laboratory assays designed detect gene mutations and translocations that commonly occur cancer. Results correlated surgical outcomes.- Interpretable generated 23 specimens. Consistent its well-known role malignancy, BRAF V600E detected 4 cases. An NRAS mutation was 1 case. No diagnoses.- Our demonstrate rinses are an adequate source material diagnostic testing. Importantly, detection implicated malignancy predictive the final diagnosis outcome. strategy triage cytology testing eliminates need perform additional passes into dedicated media schedule invasive procedures. Further investigation larger sample size confirm utility proposed underway.