Anaplastic Thyroid Cancer Arising from Dyshormonogenetic Goiter: c.3070T > C and Novel c.7070T > C Mutation in the Thyroglobulin Gene.

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. PMID: 32633627 [PubMed - as supplied by publisher]

https://www.ncbi.nlm.nih.gov/pubmed/32633627?dopt=Abstract

Source: Thyroid : official journal of the American Thyroid Association - July 9, 2020 Category: Endocrinology Tags: Thyroid Source Type: research