Familial Non-Medullary Thyroid Cancer

Abstract

Approximately 3–9% of all nonmedullary thyroid cancers are familial. Familial nonmedullary thyroid cancer (FNMTC) may occur as part of a familial cancer syndrome (syndromic) or as the predominant or only feature being nonmedullary thyroid cancer (nonsyndromic). Most cases of FNMTC are nonsyndromic, accounting for approximately 95% of all FNMTC cases. In syndromic FNMTC, although the risk of nonmedullary thyroid cancer is higher than in the general population, it is commonly a minor component or an infrequent manifestation of the syndrome, which includes familial adenomatous polyposis, PTEN hamartoma tumor syndrome, Carney’s complex type 1, Werner, Pendred and DICER1 syndromes, and ataxia-telangiectasia. In this article, we review our current understanding of the genetics of syndromic and nonsyndromic FNMTC, the strategies and results of screening and surveillance, the known clinicopathologic features of syndromic and nonsyndromic FNMTC, and the treatment options in patients with FNMTC.