title: Molecular diagnostics of thyroid tumors.
abstract: BACKGROUND
  Thyroid cancer is the most common type of endocrine malignancy and its incidence is steadily increasing. Papillary carcinoma and follicular carcinoma are the most common types of thyroid cancer and represent those tumor types for which use of molecular markers for diagnosis and prognostication is of high clinical significance.
  
  
  OBJECTIVE
  To review the most common molecular alterations in thyroid cancer and their diagnostic and prognostic utility.
  
  
  METHODS
  PubMed (US National Library of Medicine)-available review articles, peer-reviewed original articles, and experience of the author.
  
  
  CONCLUSIONS
  The most common molecular alterations in thyroid cancer include BRAF and RAS point mutations and RET/PTC and PAX8/PPAR γ rearrangements. These nonoverlapping genetic alterations are found in more than 70% of papillary and follicular thyroid carcinomas. These molecular alterations can be detected in surgically resected samples and fine-needle aspiration samples from thyroid nodules and can be of significant diagnostic use. The diagnostic role of BRAF mutations has been studied most extensively, and recent studies also demonstrated a significant diagnostic utility of RAS, RET/PTC, and PAX8/PPAR γ mutations, particularly in thyroid fine-needle aspiration samples with indeterminate cytology. In addition to the diagnostic use, BRAF V600E mutation can also be used for tumor prognostication, as this mutation is associated with higher rate of tumor recurrence and tumor-related mortality. The use of these and other emerging molecular markers is expected to improve significantly the accuracy of cancer diagnosis in thyroid nodules and allow more individualized surgical and postsurgical management of patients with thyroid cancer.
authors.affiliation: Department of Pathology and Laboratory Medicine, University of Pittsburgh Medical Center, Pittsburgh, Pennsylvania, USA. nikiforovye@upmc.edu
authors.forename: Yuri E
authors.initials: YE
authors.lastname: Nikiforov
mesh_terms: D018263:Adenocarcinoma, Follicular / Q000175:diagnosis* / Q000235:genetics / Q000401:mortality; D002291:Carcinoma, Papillary / Q000175:diagnosis* / Q000235:genetics / Q000401:mortality; D002869:Chromosome Aberrations; D006801:Humans; D025202:Molecular Diagnostic Techniques / Q000379:methods*; D009364:Neoplasm Recurrence, Local / Q000175:diagnosis / Q000235:genetics; D017354:Point Mutation; D011379:Prognosis; D048493:Proto-Oncogene Proteins B-raf / Q000235:genetics; D039781:PubMed; D015996:Survival Rate; D013964:Thyroid Neoplasms / Q000175:diagnosis* / Q000235:genetics / Q000401:mortality
chemical_list: C482119:BRAF protein, human; D048493:Proto-Oncogene Proteins B-raf