Molecular cytopathology for thyroid nodules: A review of methodology and test performance.
Advances in the molecular characterization of thyroid cancers have fueled the development of genetic and gene expression-based tests for thyroid fine-needle aspirations. Collectively, these tests are designed to improve the diagnostic certainty of thyroid cytology. This review summarizes the early published experience with the commercially available versions of these tests: the Afirma Gene Expression Classifier, ThyGenX (formerly miRInform)/ThyraMIR, and ThyroSeq. Key differences in testing approaches and issues regarding test performance and interpretation are also discussed.
Department of Pathology, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, Massachusetts.
Michiya
M
Nishino
D044963:Biopsy, Fine-Needle / Q000379:methods; D003581:Cytodiagnosis / Q000379:methods; D004252:DNA Mutational Analysis / Q000379:methods; D005260:Female; D020869:Gene Expression Profiling / Q000379:methods*; D015972:Gene Expression Regulation, Neoplastic; D059014:High-Throughput Nucleotide Sequencing / Q000379:methods*; D006801:Humans; D008297:Male; D040081:Protein Array Analysis / Q000379:methods; D015203:Reproducibility of Results; D012680:Sensitivity and Specificity; D013964:Thyroid Neoplasms / Q000235:genetics* / Q000473:pathology; D016606:Thyroid Nodule / Q000235:genetics* / Q000473:pathology
DNA mutational analysis; fine-needle aspiration biopsy; high-throughput nucleotide sequencing; microarray analysis; molecular diagnostic techniques; thyroid neoplasms