Utility of BRAF mutation detection in fine-needle aspiration biopsy samples read as "suspicious for papillary thyroid carcinoma"

作者：Jara Sebastian M; Bhatnagar Ramneesh; Guan Hui; Gocke Christopher D; Ali Syed Z; Tufano Ralph P^*

来源：Head and Neck-Journal for the Sciences and Specialties of the Head and Neck, 2015, 37(12): 1788-1793.

DOI：10.1002/hed.23829

• BRAF mutation
• fine-needle aspiration biopsy
• papillary thyroid carcinoma
• suspicious for papillary carcinoma
• molecular marker testing

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.
Conclusion. BRAF testing is a useful adjunct to improve PPV for patients with "suspicious for PTC" cytology.

• 出版日期2015-12