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- Title
Detection of an Activating Mutation of the Thyrotropin Receptor in a Case of an Autonomously Hyperfunctioning Thyroid Insular Carcinoma.
- Authors
RUSSO, DIEGO; TUMINO, SALVATORE; ARTURI, FRANCO; VIGNERI, PAOLO; GRASSO, GIUSEPPE; PONTECORVI, ALFREDO; FILETTI, SEBASTIANO; BELFIORE, ANTONINO
- 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.
- Publication
Journal of Clinical Endocrinology & Metabolism, 1997, Vol 82, Issue 3, p735
- ISSN
0021-972X
- Publication type
Article
- DOI
10.1210/jcem.82.3.3838