Molecular screening for point mutations and rearrangements is feasible in air-dried FNAs. Although the impact of detecting point mutations and rearrangements in FNAs has most likely been overestimated in previous studies, molecular FNA analyses improve presurgical diagnostics. The detection of BRAF mutations in FNA may improve the choice of surgery and postsurgical treatment. Further data are necessary to elucidate the true impact of detecting RAS and PAX8/PPARG mutations in FNAs. The inclusion of additional rare somatic mutations and miRNA markers might further improve the impact of molecular FNA diagnostics.

Key words• ▶ thyroid cancer • ▶ diagnostics • ▶ mutations • ▶ fi ne-needle aspiration • ▶ thyroid cytology respectively [ 4 ] . In FTCs, PAX8 / PPARG rearrangements and RAS mutations have been detected in 25-63 % and 40-53 %, respectively [ 4 ] . Therefore, molecular testing for somatic mutations has emerged as the most promising approach for molecular FNA diagnosis [ 5 -7 ] . It allows improved discrimination of the "follicular proliferation/indeterminate" and "suspicious" FNA categories, leading to reduced numbers of diagnostic thyroidectomies and false negative FNAs [ 8 ] . Hitherto a variety of molecular techniques have been used to detect these mutations. These comprise LightCycler PCR using hybridization probes, quantitative (q)PCR and post-PCR melting curve analysis, allele specifi c PCR, direct sequencing, restriction fragment polymorphism analysis, colorimetric assays, and nested PCR [ 9 -15 ] . In archived FNA smears a similar sensitivity in the Introduction ▼ Thyroid cancer comprises 94.5 % of all endocrine malignancies, and ranks 13 th in frequency of occurrence among all cancers, accounting for 2.6 % of all cases [ 1 ] . The majority of thyroid cancers are well-diff erentiated malignancies originating from thyroid follicular cells. The most frequent histotypes are papillary thyroid carcinomas (PTCs), followed by follicular thyroid carcinomas (FTCs). Currently the best method to select suspicious nodules for surgery is ultrasound-guided fi ne needle aspiration (FNA) cytology [ 2 , 3 ] . However, despite high specifi city and sensitivity, FNA cytology has some inherent limitations, which can partly be overcome by molecular analysis, since RET / PTC rearrangements and BRAF point mutations have been detected in Impact of Diff erent Methodologies on the Detection of Point Mutations in Routine Air-dried Fine Needle Aspiration (FNA) Smears

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