A Phe 486 thyrotropin receptor mutation in an autonomously functioning follicular carcinoma that was causing hyperthyroidism

被引：44
作者：
Camacho, P
Gordon, D
Chiefari, E
Yong, S
DeJong, S
Pitale, S
Russo, D
Filetti, S
机构：
[1] Loyola Univ, Med Ctr, Div Endocrinol & Metab, Maywood, IL 60153 USA
[2] Loyola Univ, Med Ctr, Dept Pathol, Maywood, IL 60153 USA
[3] Loyola Univ, Med Ctr, Dept Surg, Maywood, IL 60153 USA
[4] Univ Catanzaro, Dipartimento Med Sperimentale & Clin, Cattedra Endocrinol, Catanzaro, Italy
[5] Univ Catanzaro, Dipartimento Sci Farmacobiol, Catanzaro, Italy
来源：
THYROID | 2000年 / 10卷 / 11期
关键词：
D O I：
10.1089/thy.2000.10.1009
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
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.
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页码：1009 / 1012
页数：4
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