Detection of an activating mutation of the thyrotropin receptor in a case of an autonomously hyperfunctioning thyroid insular carcinoma.
J Clin Endocrinol Metab
; 82(3): 735-8, 1997 Mar.
Article
en En
| MEDLINE
| ID: mdl-9062474
ABSTRACT
Thyroid carcinomas, even when well differentiated, usually appear as hypofunctioning at scintigraphy. We report a case of an aggressive insular thyroid carcinoma presenting as an autonomously functioning thyroid nodule and causing severe thyrotoxicosis. The tumor was metastatic to a cervical lymph node and both lungs. An activating mutation of the TSH receptor gene in both the primary tumor and the lymph node metastasis was found, due to a base substitution at codon 633 (normal guanine at position 1896 replaced by cytosine CAC for GAC causing aspartic acid substitution by histidine). Other known oncogenes (gsp, ras, PTC/ret, trk, met, and p53) were not involved. This is the first description of an activating TSH receptor mutation in a thyroid hyperfunctioning carcinoma in which an aggressive malignant phenotype coexisted with activation of the cAMP cascade and differentiated thyroid functions.
Buscar en Google
Banco de datos:
MEDLINE
Asunto principal:
Receptores de Tirotropina
/
Neoplasias de la Tiroides
/
Carcinoma
/
Mutación Puntual
Tipo de estudio:
Diagnostic_studies
/
Etiology_studies
Límite:
Female
/
Humans
/
Middle aged
Idioma:
En
Revista:
J Clin Endocrinol Metab
Año:
1997
Tipo del documento:
Article
País de afiliación:
Italia