title: GNAq mutations are not identified in papillary thyroid carcinomas and hyperfunctioning thyroid nodules.
abstract: Activating mutations of GNAq protein in a hotspot at codon 209 have been recently described in uveal melanomas. Since these neoplasms share with thyroid carcinomas a high frequency of MAP kinase pathway-activating mutations, we hypothesized whether GNAq mutations could also play a role in the development of thyroid carcinomas. Additionally, activating mutations of another subtype of G protein (GNAS1) are frequently found in hyperfunctioning thyroid adenomas, making it plausible that GNAq-activating mutations could also be found in some of these nodules. To investigate thyroid papillary carcinomas and thyroid hyperfunctioning nodules for GNAq mutations in exon 5, codon 209, a total of 32 RET/PTC, BRAF, and RAS negative thyroid papillary carcinomas and 13 hyperfunctioning thyroid nodules were evaluated. No mutations were identified. Although plausible, GNAq mutations seem not to play an important role in the development of thyroid follicular neoplasms, either benign hyperfunctioning nodules or malignant papillary carcinomas. Our results are in accordance with the literature, in which no GNAq hotspot mutations were found in thyroid papillary carcinomas, as well as in an extensive panel of other tumors. The molecular basis for MAP-kinase pathway activation in RET-PTC/BRAF/RAS negative thyroid carcinomas remains to be determined.
authors: Department of Pathology, University of Toronto, Toronto, ON, Canada. clarissa.cassol@uhnres.utoronto.ca
authors: Clarissa A
authors: CA
authors: Cassol
authors: Miao
authors: M
authors: Guo
authors: Shereen
authors: S
authors: Ezzat
authors: Sylvia L
authors: SL
authors: Asa
mesh_terms: D000236:Adenoma / Q000235:genetics*; D002291:Carcinoma, Papillary / Q000235:genetics*; D044385:GTP-Binding Protein alpha Subunits / Q000235:genetics*; D043802:GTP-Binding Protein alpha Subunits, Gq-G11; D006801:Humans; D009154:Mutation; D016133:Polymerase Chain Reaction; D013964:Thyroid Neoplasms / Q000235:genetics*; D016606:Thyroid Nodule / Q000235:genetics*
chemical_list: C554061:GNAQ protein, human; D044385:GTP-Binding Protein alpha Subunits; D043802:GTP-Binding Protein alpha Subunits, Gq-G11