BACKGROUND: The BRAF V600E mutation has been reported in 50%-80% of papillary thyroid carcinoma (PTC) cases and is highly specific for PTC. Reflex BRAF testing may improve the diagnostic accuracy of thyroid fine-needle aspiration (FNA) tests having equivocal cytologic interpretations and provide prognostic information that helps guide management in patients with PTC. PATIENTS AND METHODS: Cases with equivocal thyroid FNA readings (indeterminate and suspicious for PTC) or a positive diagnosis for PTC and concomitant BRAF mutation analysis were included in this prospective study. BRAF mutation analysis was performed by polymerase chain reaction combined with single-strand conformation polymorphism gel electrophoresis using lavage fluid obtained from needle rinsing. The results of histopathologic follow-up were correlated with the cytologic interpretations and BRAF status. RESULTS: One hundred fifty-seven FNAs with equivocal or positive cytologic interpretations were eligible for the study. All but one (99.4%) FNAs were found to have sufficient DNA quality and quantity for the assay. Based on the follow-up diagnosis of nodules after surgical resection, the sensitivity for diagnosing PTC was 63.3% with cytology alone and 80.0% with the combination of cytology and BRAF testing, respectively. No false positives were noted with either cytology or BRAF mutation analysis. All PTCs with extrathyroidal extension and of tall-cell variant were postive for BRAF mutation. CONCLUSIONS: BRAF V600E mutation analysis can be easily performed on cytologic preparation using lavage fluids obtained from needle rinsing. By combining morphologic evaluation and BRAF testing, there is a substantial improvement in the preoperative identification of PTC when compared with cytology alone. Patients with equivocal cytologic diagnosis and BRAF V600E mutation are candidates for total thyroidectomy ± central lymph node dissection.
BACKGROUND: The BRAFV600E mutation has been reported in 50%-80% of papillary thyroid carcinoma (PTC) cases and is highly specific for PTC. Reflex BRAF testing may improve the diagnostic accuracy of thyroid fine-needle aspiration (FNA) tests having equivocal cytologic interpretations and provide prognostic information that helps guide management in patients with PTC. PATIENTS AND METHODS: Cases with equivocal thyroid FNA readings (indeterminate and suspicious for PTC) or a positive diagnosis for PTC and concomitant BRAF mutation analysis were included in this prospective study. BRAF mutation analysis was performed by polymerase chain reaction combined with single-strand conformation polymorphism gel electrophoresis using lavage fluid obtained from needle rinsing. The results of histopathologic follow-up were correlated with the cytologic interpretations and BRAF status. RESULTS: One hundred fifty-seven FNAs with equivocal or positive cytologic interpretations were eligible for the study. All but one (99.4%) FNAs were found to have sufficient DNA quality and quantity for the assay. Based on the follow-up diagnosis of nodules after surgical resection, the sensitivity for diagnosing PTC was 63.3% with cytology alone and 80.0% with the combination of cytology and BRAF testing, respectively. No false positives were noted with either cytology or BRAF mutation analysis. All PTCs with extrathyroidal extension and of tall-cell variant were postive for BRAF mutation. CONCLUSIONS:BRAFV600E mutation analysis can be easily performed on cytologic preparation using lavage fluids obtained from needle rinsing. By combining morphologic evaluation and BRAF testing, there is a substantial improvement in the preoperative identification of PTC when compared with cytology alone. Patients with equivocal cytologic diagnosis and BRAFV600E mutation are candidates for total thyroidectomy ± central lymph node dissection.
Authors: Bryan R Haugen; Erik K Alexander; Keith C Bible; Gerard M Doherty; Susan J Mandel; Yuri E Nikiforov; Furio Pacini; Gregory W Randolph; Anna M Sawka; Martin Schlumberger; Kathryn G Schuff; Steven I Sherman; Julie Ann Sosa; David L Steward; R Michael Tuttle; Leonard Wartofsky Journal: Thyroid Date: 2016-01 Impact factor: 6.568
Authors: Bálint Tobiás; Csaba Halászlaki; Bernadett Balla; János P Kósa; Kristóf Árvai; Péter Horváth; István Takács; Zsolt Nagy; Evelin Horváth; János Horányi; Balázs Járay; Eszter Székely; Tamás Székely; Gabriella Győri; Zsuzsanna Putz; Magdolna Dank; Zsuzsanna Valkusz; Béla Vasas; Béla Iványi; Péter Lakatos Journal: Pathol Oncol Res Date: 2015-08-11 Impact factor: 3.201
Authors: Ogechukwu P Eze; Guoping Cai; Zubair W Baloch; Ashraf Khan; Renu Virk; Lynwood W Hammers; Robert Udelsman; Sanziana A Roman; Julie A Sosa; Tobias Carling; David Chhieng; Constantine G A Theoharis; Manju L Prasad Journal: Thyroid Date: 2012-12-28 Impact factor: 6.506
Authors: Homero Gustavo Correia Rodrigues; Alana Abrantes Nogueira DE Pontes; Luis Fernando Adan Journal: Oncol Lett Date: 2013-05-22 Impact factor: 2.967