BRAF MUTATION ANALYSIS IN THYROID DISEASES- A STUDY FROM A TERTIARY CARE HOSPITAL/CENTRE IN KERALA
Journal Title: Journal of Evolution of Medical and Dental Sciences - Year 2017, Vol 6, Issue 43
Abstract
BACKGROUND Thyroid nodules are present in approximately 5-10% of adults on physical examination and in 50–70% of people above 60 years of age on imaging, of which about 5–8% of thyroid nodules are malignant. Proto-oncogenes that are particularly important in thyroid carcinogenesis include RET, TRK, and RAS. BRAF mutation is a major cause of aberrant activation of the MAP kinase pathway in human cancers. The T1799A (Thymine to adenine) mutation is the most common and virtually the only BRAF mutation identified in thyroid cancer and is associated with aggressive clinicopathological outcomes including tumour invasion, metastasis and recurrence. Aim- To study the frequency of BRAF mutation in various thyroid diseases. MATERIALS AND METHODS A descriptive study which was done over a period of 2 years where all thyroidectomy specimens obtained during the study period were sampled. Histopathological study was done in Department of Pathology at our institute and molecular study done at Rajiv Gandhi Centre for Biotechnology, Thiruvananthapuram. RESULTS Most common lesion was multinodular goitre followed by solitary nodule. Papillary carcinoma accounted for 6.8% of cases. BRAF mutation was negative in all cases. CONCLUSION BRAF mutation is highly specific for papillary thyroid carcinoma with zero percent positivity in goitre, thyroiditis and other thyroid diseases. This suggests the possibility to evaluate thyroid nodules at molecular level preoperatively using FNAB to decide on further management.
Authors and Affiliations
Priya P. Kartha, Santha Sadasivan
Keywords
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- EP ID EP214512
- DOI 10.14260/Jemds/2017/727
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