Familial nonmedullary thyroid carcinoma

Thyroid. 2013 Sep;23(9):1049-56. doi: 10.1089/thy.2013.0079. Epub 2013 Aug 3.


Background: Nonmedullary thyroid cancers (NMTC) originate from the follicular cells of the thyroid gland and account for over 90% of all thyroid cancers. About 3-10% of the NMTCs are of familial origin, and familial NMTC (FNMTC) is defined as two or more affected first-degree relatives with NMTC in the absence of other known familial syndromes.

Summary: The genes involved in the pathogenesis of FNMTC are yet to be elucidated, although some recent studies identified several predisposition loci with a high degree of genetic heterogeneity. To date, several studies have evaluated the aggressive tumor characteristics associated with FNMTC with conflicting results. Several studies demonstrated that patients with FNMTC have increased rates of multifocal disease, extrathyroidal invasion, and involved lymph nodes compared with sporadic disease. It has been hypothesized that this increased aggressiveness translates into higher recurrence rates and decreased survival of patients with FNMTC.

Conclusion: This review highlights clinical aspects and management dilemmas as well as controversial issues in FNMTC. Management recommendations are deduced.

Publication types

  • Review

MeSH terms

  • Adenocarcinoma, Follicular / genetics*
  • Adenocarcinoma, Follicular / mortality
  • Adenocarcinoma, Follicular / pathology
  • Adenocarcinoma, Follicular / therapy
  • Carcinoma / genetics*
  • Carcinoma / mortality
  • Carcinoma / pathology
  • Carcinoma / therapy
  • Carcinoma, Papillary
  • Diagnostic Imaging / methods
  • Genetic Predisposition to Disease
  • Heredity
  • Humans
  • Incidence
  • Pedigree
  • Phenotype
  • Predictive Value of Tests
  • Risk Factors
  • Thyroid Cancer, Papillary
  • Thyroid Neoplasms / genetics*
  • Thyroid Neoplasms / mortality
  • Thyroid Neoplasms / pathology
  • Thyroid Neoplasms / therapy
  • Treatment Outcome