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

Creative Commons License

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

THYROID, cilt.30, ss.1482-1489, 2020 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 30
  • Basım Tarihi: 2020
  • Doi Numarası: 10.1089/thy.2019.0648
  • Dergi Adı: THYROID
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, EMBASE, MEDLINE
  • Sayfa Sayıları: ss.1482-1489
  • Anahtar Kelimeler: thyroid nodules, TSH receptor, GNAS, genetics, prevalence, SOMATIC MUTATIONS, POINT MUTATIONS, GENE, PREVALENCE, IDENTIFICATION, ACTIVATION, ADENOMAS, DNA
  • Marmara Üniversitesi Adresli: Evet

Özet

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.