Familial Non-Medullary Thyroid Cancer
Pp. 64-75 (12)
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.
FNMTC, Cowden disease, Werner syndrome, Carney complex,
Section of Endocrinology & Metabolism, Department of Internal Medicine, Endocrinology & Metabolism and Biochemistry, University of Siena, Siena, Italy.