Molecular alterations in thyroid lesions-, a review of diagnostic applications to fine needle aspiration (FNA) samples

摘要

Many studies published in the past several years have shown that molecular analysis of fine needle aspiration (FNA) thyroid specimens is both feasible and useful M1. In fact, the type of genetic alterations that occur in thyroid cancer, the clinical context and the very nature of FNA samples, make the latter ideally suited for molecular analysis. This is the case for several reasons. Thyroid tumors show a remarkable correlation between phenotype (i.e. tumor type) and genotype (genetic alterations), a correlation that is closer than that observed in other epithelial neoplasms. Carcinomas with papillary architecture (classic papillary carcinoma or its tall cell variant) are characterized by a high prevalence of two specific molecular alterations: BRAF mutation (BRAFV600E), in 30-70% of cases and RET/PTC rearrangement, in 20-40%.