Detection of an activating mutation of the thyrotropin receptor in a case of an autonomously hyperfunctioning thyroid insular carcinoma
The Journal of Clinical Endocrinology & Metabolism, 1997•academic.oup.com
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 …
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 …
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.
Oxford University Press