title: A Phe 486 thyrotropin receptor mutation in an autonomously functioning follicular carcinoma that was causing hyperthyroidism.
abstract: Hot nodules are rarely found to be carcinomas. We report a case of a nonmetastatic follicular carcinoma that presented as a hot nodule that was causing hyperthyroidism. A base substitution (ATC for TTC) was found in codon 486 of the TSH receptor gene and this resulted in the substitution of an isoleucine for a phenylalanine in the first extracellular loop of the receptor. This was absent in the deoxyribonucleic acid from the surrounding normal thyroid tissue indicating its somatic origin. This mutation, which was previously reported to activate both cyclic adenosine monophosphate and the inositol phosphate-diacylglycerol cascades, may have been responsible for the constitutive activation of the thyrotropin receptor and resulting hyperfunction of this follicular carcinoma.
authors: Division of Endocrinology and Metabolism, Loyola University Medical Center, Maywood, Illinois 60153, USA. pcamach@luc.edu
authors: P
authors: P
authors: Camacho
authors: D
authors: D
authors: Gordon
authors: E
authors: E
authors: Chiefari
authors: S
authors: S
authors: Yong
authors: S
authors: S
authors: DeJong
authors: S
authors: S
authors: Pitale
authors: D
authors: D
authors: Russo
authors: S
authors: S
authors: Filetti
mesh_terms: D018263:Adenocarcinoma, Follicular / Q000150:complications / Q000235:genetics* / Q000473:pathology; D005260:Female; D006801:Humans; D006980:Hyperthyroidism / Q000209:etiology / Q000235:genetics* / Q000473:pathology; D008875:Middle Aged; D017354:Point Mutation; D011989:Receptors, Thyrotropin / Q000235:genetics*; D013964:Thyroid Neoplasms / Q000150:complications / Q000235:genetics* / Q000473:pathology
chemical_list: D011989:Receptors, Thyrotropin