Sensitive Sequencing Analysis Suggests Thyrotropin Receptor and Guanine Nucleotide-Binding Protein G Subunit Alpha as Sole Driver Mutations in Hot Thyroid Nodules

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Stephenson A., Eszlinger M., Stewardson P., Mcıntyre J. B., Boesenberg E., Bircan R., ...More

THYROID, vol.30, pp.1482-1489, 2020 (SCI-Expanded, Scopus) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 30
  • Publication Date: 2020
  • Doi Number: 10.1089/thy.2019.0648
  • Journal Name: THYROID
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, EMBASE, MEDLINE
  • Page Numbers: pp.1482-1489
  • Keywords: thyroid nodules, TSH receptor, GNAS, genetics, prevalence, SOMATIC MUTATIONS, POINT MUTATIONS, GENE, PREVALENCE, IDENTIFICATION, ACTIVATION, ADENOMAS, DNA
  • Open Archive Collection: AVESIS Open Access Collection
  • Marmara University Affiliated: Yes

Abstract

Background: Constitutively activating mutations in the thyrotropin receptor (TSHR) and the guanine nucleotide-binding protein G subunit alpha (GNAS) are the primary cause of hot thyroid nodules (HTNs). The reported prevalence of TSHR and GNAS mutations in HTNs varies. Previous studies show TSHR mutations in 8-82% of HTNs and GNAS mutations in 8-75% of HTNs. With sensitive and comprehensive targeted next-generation sequencing (tNGS), we re-evaluated the prevalence of TSHR and GNAS mutations in HTNs.