title: Utility of BRAF mutation detection in fine-needle aspiration biopsy samples read as "suspicious for papillary thyroid carcinoma".
abstract: BACKGROUND
  The purpose of this study was to evaluate the diagnostic utility of BRAF mutation testing on thyroid nodules "suspicious for papillary thyroid carcinoma" (PTC) cytology.
  
  
  METHODS
  A chart review of patients with fine-needle aspiration (FNA) results "suspicious for PTC" with subsequent thyroidectomy was performed. Corresponding archived FNA slides underwent BRAF mutation testing.
  
  
  RESULTS
  Sixty-six patients with FNA "suspicious for PTC" underwent thyroidectomy. Forty-two (63.6%) had PTC diagnosed on final histopathology, whereas 21 (31.8%) had benign findings. Thirty-five patients (83%) with histologically proven PTC underwent total thyroidectomy, whereas 7 (17%) underwent hemithyroidectomy. BRAF mutation was detected in 17 of 49 samples (34.6%) available for testing and had 45.5% sensitivity, 87.5% specificity, 88.2% positive predictive value (PPV), and 43.8% negative predictive value (NPV) for diagnosing PTC. Two of 4 patients (50%) who underwent hemithyroidectomy with subsequent completion thyroidectomy had mutated BRAF detected.
  
  
  CONCLUSIONS
  BRAF testing is a useful adjunct to improve PPV for patients with "suspicious for PTC" cytology.
authors.affiliation: Division of Head and Neck Endocrine Surgery, Department of Otolaryngology Head and Neck Surgery, Johns Hopkins University, School of Medicine, Baltimore, Maryland.
authors.forename: Sebastian M
authors.initials: SM
authors.lastname: Jara
authors.affiliation: Division of Cytopathology, Department of Pathology, Johns Hopkins University, School of Medicine, Baltimore, Maryland.|Department of Pathology, University of Maryland, School of Medicine, Baltimore, Maryland.
authors.forename: Ramneesh
authors.initials: R
authors.lastname: Bhatnagar
authors.affiliation: Division of Cytopathology, Department of Pathology, Johns Hopkins University, School of Medicine, Baltimore, Maryland.|Department of Pathology, Wayne State University, School of Medicine, Detroit, Michigan.
authors.forename: Hui
authors.initials: H
authors.lastname: Guan
authors.affiliation: Division of Molecular Pathology, Department of Pathology, Johns Hopkins University, School of Medicine, Baltimore, Maryland.
authors.forename: Christopher D
authors.initials: CD
authors.lastname: Gocke
authors.affiliation: Division of Cytopathology, Department of Pathology, Johns Hopkins University, School of Medicine, Baltimore, Maryland.
authors.forename: Syed Z
authors.initials: SZ
authors.lastname: Ali
authors.affiliation: Division of Head and Neck Endocrine Surgery, Department of Otolaryngology Head and Neck Surgery, Johns Hopkins University, School of Medicine, Baltimore, Maryland.
authors.forename: Ralph P
authors.initials: RP
authors.lastname: Tufano
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D014408:Biomarkers, Tumor / Q000235:genetics*; D044963:Biopsy, Fine-Needle / Q000379:methods; D002277:Carcinoma / Q000191:economics / Q000453:epidemiology / Q000235:genetics* / Q000473:pathology* / Q000601:surgery; D002291:Carcinoma, Papillary; D002648:Child; D005260:Female; D006801:Humans; D008297:Male; D008396:Maryland / Q000453:epidemiology; D008824:Michigan / Q000453:epidemiology; D008875:Middle Aged; D009154:Mutation; D011237:Predictive Value of Tests; D048493:Proto-Oncogene Proteins B-raf / Q000235:genetics*; D012189:Retrospective Studies; D012680:Sensitivity and Specificity; D000077273:Thyroid Cancer, Papillary; D013964:Thyroid Neoplasms / Q000191:economics / Q000453:epidemiology / Q000235:genetics* / Q000473:pathology* / Q000601:surgery; D016606:Thyroid Nodule / Q000191:economics / Q000235:genetics* / Q000473:pathology* / Q000601:surgery; D013965:Thyroidectomy / Q000379:methods
chemical_list: D014408:Biomarkers, Tumor; C482119:BRAF protein, human; D048493:Proto-Oncogene Proteins B-raf
keywords: BRAF mutation; fine-needle aspiration biopsy; molecular marker testing; papillary thyroid carcinoma; suspicious for papillary carcinoma