Presurgical screening of fine needle aspirates from thyroid nodules for BRAF mutations: A prospective single center experience

• Main Authors: Ramamoorthy Hemalatha, Rekha Pai, Marie T Manipadam, Grace Rebekah, Anish J Cherian, Deepak T Abraham, Simon Rajaratnam, Nihal Thomas, Pooja Ramakant, Paul M Jacob
• Format: Article
• Language: English
• Published: Wolters Kluwer Medknow Publications 2018-01-01
• Series: Indian Journal of Endocrinology and Metabolism
• Subjects: Atypia of undetermined significance”/”follicular lesion of uncertain significance; BRAF mutations; cytology; Fine-needle aspiration; papillary thyroid carcinoma
• Online Access: http://www.ijem.in/article.asp?issn=2230-8210;year=2018;volume=22;issue=6;spage=785;epage=792;aulast=Hemalatha

Objective: Analysis of BRAF V600E mutation in thyroid fine needle aspirates (FNA) is an important adjunct to cytology, particularly among FNA placed in the “indeterminate category.” However, such a prospective evaluation of FNA obtained from patients with thyroid nodules has been lacking from India. Material and Methods: FNA from 277 patients were prospectively evaluated for BRAF mutations by Sanger's sequencing. A subset of 30 samples was also analyzed by pyrosequencing using the PyroMark BRAF mutation kit. Results: Overall, 27.2% of FNA samples were positive for mutations including 19 (35.8%) of the 53 histologically confirmed papillary thyroid carcinoma (PTC), 2 of the 25 follicular variants of PTC, and 1 anaplastic thyroid carcinoma. Only 1 (2.7%) of the 37 samples in the atypia of undetermined significance/follicular lesion of unknown significance category was BRAF positive. The sensitivity of cytology improved marginally from 67.1% to 68.3% when evaluated with BRAF. Further, a comparison of the clinicopathological characteristics of BRAF positive and negative PTCs showed a significant association (P = 0.05) between lymph node metastasis and BRAF positivity. Conclusion: BRAF positivity was lower than that reported from East Asia with the test being useful in confirming malignancies among the suspicious of malignancy and malignant categories.