Concomitant thyroid cancer in patients with congenital thyroid dyshormonogenesis (TD) is extremely rare and few cases of differentiated thyroid cancer in patients with TD have been reported thus far. In this study, we describe anaplastic thyroid cancer in a 46-year-old woman with TD who had two germline thyroglobulin (TG) gene mutation, c.3790T>C (p, Cys1264Arg) in exon 17 and a novel c.7070T>C (p.Leu2357Pro) in exon 41 of the TG gene. Two affected younger sisters were also found to have the same TG mutation but not anaplastic thyroid cancer. Any thyroid nodular lesions that develop in patients with TD should be investigated carefully.
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