Familial Non-Medullary Thyroid Cancer

Familial non-medullary thyroid cancer is a clear clinical distinct entity characterized by multifocality and a more severe phenotype and is defined as the presence of two or more first-degree relatives affected by differentiated thyroid cancer of follicular origin. In some cases, the disease is associated with rare hereditary syndromes such as Carney complex, Werner syndromes, FAP and Cowden syndromes. However, in the majority of the cases, patients have thyroid cancer as the only disease manifestation. Several studies have tried to identify the genetic alteration(s) responsible for the development of FNMTC with promising results although none of the genes/loci identified accounts for the majority of cases of FNMTC and cannot be generalized to the larger at-risk population.

Keywords: FNMTC, Cowden disease, Werner syndrome, Carney complex, genetic loci.