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False-Positive FNA Due to Highly Sensitive BRAF Assay
Institution:1. Department of Otolaryngology, Head, and Neck Surgery;2. Department of Endocrinology;3. Department of Pathology, Thomas Jefferson University, Philadelphia, Pennsylvania.;1. Pediatric Endocrinology and Diabetes Unit, Edmond and Lily Safra Children’s Hospital, Sheba Medical Center, Tel Hashomer, Israel;2. Sackler School of Medicine, Tel-Aviv University, Israel;3. Women and Children’s Health Research Unit, Gertner Institute.;1. Department of Internal Medicine, Division of Endocrinology, Diabetes, Metabolism and Nutrition, Mayo Clinic, Rochester, Minnesota;2. Department of Endocrinology, Central DuPage Hospital, Winfield, Illinois;3. Department of Internal Medicine, Division of Cardiovascular Diseases, Mayo Clinic, Rochester, Minnesota;4. Department of Health Sciences Research, Division of Biostatistics, Mayo Clinic, Rochester, Minnesota.;1. Division of Endocrinology and Metabolism, Department of Internal Medicine, Medical University of Graz, Graz, Austria;2. INSERM UMR 1033, Université de Lyon, Hôpital Edouard Herriot, France.
Abstract:ObjectiveFalse-positive BRAF analysis on fine-needle aspiration (FNA) has rarely been reported in the literature but may become more common with the advent of assays that can detect the BRAF V600E mutation in only 2% of otherwise wild-type thyroid cells. We present the case of an indeterminate BRAF-positive FNA that showed no evidence of cancer on final surgical pathology.MethodsCase report and literature review.ResultsAn 87-year-old female with an indeterminate 1.7-cm nodule but BRAF-positive cytology underwent thyroid lobectomy. Final pathology revealed a benign adenomatoid nodule. An area rich in tumor cells from the nodule was identified, labeled, and microdissected for molecular testing, which demonstrated only wild-type BRAF, at the analytical limit of the assay.ConclusionIncreasingly sensitive BRAF assays using dual-priming oligonucleotide-based multiplex polymerase chain reaction analysis can detect the BRAF V600E mutation when present in only 2% of a population of wild-type cells. This increases the risk of false-positive results, particularly in cases of indeterminate FNA. Clinicians must caution patients in these circumstances that BRAF molecular testing may not have a 100% positive predictive value. (Endocr Pract. 2014;20:e8-e10)
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