title: Ruling in or ruling out thyroid malignancy by molecular diagnostics of thyroid nodules.
abstract: Routine morphologic cytology is the basis for any kind of (integrated) molecular FNA diagnostics. The rule out (gene expression classifier) approach requires confirmation by independent studies, whereas the rule in approach (detection of BRAF, NRAS, HRAS, and KRAS and PAX8/PPARG- and RET/PTC rearrangements) has been investigated by several groups with overall reproducible results. Moreover, molecular screening for point mutations and rearrangements is feasible in routine air-dried FNA smears, offering several advantages over obtaining additional fresh FNA material. The current panel of somatic mutations (rule in approach) for indeterminate FNAs clarifies only a subgroup of indeterminate FNAs. Therefore, further markers are urgently needed that can reliably identify the malignant, but mutation negative and especially the many benign nodules, among the indeterminate FNAs. miRNA markers and the targeted next generation sequencing (NGS) technology do have the potential to identify those nodules that are mutation negative by current approaches.
authors.affiliation: Division of Endocrinology and Nephrology, University of Leipzig, Liebigstr. 21, D-04103 Leipzig, Germany. Electronic address: markus.eszlinger@medizin.uni-leipzig.de.
authors.forename: Markus
authors.initials: M
authors.lastname: Eszlinger
authors.affiliation: Department of Endocrinology and Metabolism, Odense University Hospital, Odense, Denmark. Electronic address: Laszlo.Hegedus@rsyd.dk.
authors.forename: László
authors.initials: L
authors.lastname: Hegedüs
authors.affiliation: Division of Endocrinology and Nephrology, University of Leipzig, Liebigstr. 20, D-04103 Leipzig, Germany. Electronic address: ralf.paschke@medizin.uni-leipzig.de.
authors.forename: Ralf
authors.initials: R
authors.lastname: Paschke
mesh_terms: D044963:Biopsy, Fine-Needle; D003937:Diagnosis, Differential; D006044:Goiter, Nodular / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D025202:Molecular Diagnostic Techniques / Q000379:methods*; D009154:Mutation; D016606:Thyroid Nodule / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology
keywords: cytology; fine needle aspiration; molecular diagnostics; thyroid cancer