title: Information for clinicians: commercially available molecular diagnosis testing in the evaluation of thyroid nodule fine-needle aspiration specimens.
abstract: TSH receptor mRNA reverse transcription-polymerase chain reaction, the Veracyte and Asuragen commercial methods, and the noncommercial use of BRAF, RAS, RET/PTC, and PAX8/PPARγ testing have promising roles in the diagnosis and treatment of patients with nodular thyroid disease and thyroid cancer. However, at this time, experience with these molecular methods remains limited, and no test has perfect sensitivity and specificity. Peer-reviewed data evaluating the diagnostic performance of these tests are increasingly available. The American Thyroid Association (ATA) feels that until an expert consensus review of existing data (now underway by the ATA Guidelines Task Force) can be completed, no evidence-based recommendation for or against the use of these methods can be made. Clinicians are therefore advised to consider the use of these genetic diagnosis methods with appropriate caution, and to remain cognizant of the limitations of the data supporting their use. Patients who are interested in the use of these tests in their own care should discuss them thoroughly with their care providers. Until evidence-based recommendations are available, determining whether or not the limited data available support the use of these methods should be considered on a case-by-case basis.
authors.affiliation: Department of Endocrinology, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania 15213, USA. sph12@pitt.edu
authors.forename: Steven P
authors.initials: SP
authors.lastname: Hodak
authors.forename: David S
authors.initials: DS
authors.lastname: Rosenthal
mesh_terms: D044963:Biopsy, Fine-Needle; D015870:Gene Expression; D011905:Genes, ras / Q000235:genetics; D006801:Humans; D025202:Molecular Diagnostic Techniques / Q000191:economics / Q000379:methods; D015514:Oncogene Proteins, Fusion / Q000032:analysis; D011505:Protein-Tyrosine Kinases / Q000032:analysis; D048493:Proto-Oncogene Proteins B-raf / Q000235:genetics; D012333:RNA, Messenger / Q000032:analysis; D011989:Receptors, Thyrotropin / Q000097:blood / Q000235:genetics; D012680:Sensitivity and Specificity; D013964:Thyroid Neoplasms / Q000175:diagnosis*; D016606:Thyroid Nodule / Q000175:diagnosis*; D054928:Validation Studies as Topic
chemical_list: D015514:Oncogene Proteins, Fusion; C551995:PAX8-PPARgamma fusion protein, human; D012333:RNA, Messenger; D011989:Receptors, Thyrotropin; D011505:Protein-Tyrosine Kinases; C093573:ret-PTC fusion oncoproteins, human; C482119:BRAF protein, human; D048493:Proto-Oncogene Proteins B-raf