| Two somatic TSH receptor mutations in a patient with toxic metastasising follicular thyroid carcinoma and non-functional lung metastases. | |
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MedLine Citation:
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PMID: 14713269 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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In a 59-year-old patient, thyroid follicular cancer was diagnosed in two right-sided toxic thyroid nodules, which had presented clinically as unilateral thyroid autonomy. In addition, the patient had histologically proven lung metastases of thyroid cancer; however, these failed to exhibit iodine uptake and were resistant to radioiodine treatment. The functional activity of the thyroid nodules prompted us to screen for TSH receptor (TSHR) mutations, and the histological diagnosis of follicular carcinoma led us to search for the PAX8-PPARgamma1 rearrangement and mutations in the ras genes. Each thyroid nodule harboured a different TSHR mutation (large nodule, Asp633Tyr; small nodule, Phe631Ile). Presence of both mutations in one sample suggestive of local invasion of a thyroid carcinoma could not be demonstrated, although several specimens from different nodule locations were screened. Only the wild-type TSHR sequence was identified in the histologically normal left thyroid lobe, and no genetic alterations were found in the other investigated genes. No TSHR mutations were detected in the pulmonary metastases. This is the first case report of a patient with toxic follicular thyroid carcinoma harbouring two different TSHR mutations and presenting with non-functional lung metastases. |
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Authors:
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D Führer; A Tannapfel; O Sabri; P Lamesch; R Paschke |
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Publication Detail:
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Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
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Title: Endocrine-related cancer Volume: 10 ISSN: 1351-0088 ISO Abbreviation: Endocr. Relat. Cancer Publication Date: 2003 Dec |
Date Detail:
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Created Date: 2004-01-09 Completed Date: 2004-09-14 Revised Date: 2006-11-15 |
Medline Journal Info:
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Nlm Unique ID: 9436481 Medline TA: Endocr Relat Cancer Country: England |
Other Details:
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Languages: eng Pagination: 591-600 Citation Subset: IM |
Affiliation:
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III Medical Department,University of Leipzig, Leipzig, Germany. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adenocarcinoma, Follicular
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genetics*,
pathology*,
secondary,
therapy Electrophoresis Histocytochemistry Humans Lung Neoplasms / secretion Male Middle Aged Point Mutation* Polymerase Chain Reaction RNA, Neoplasm / chemistry, genetics Receptors, Thyrotropin / genetics* Sequence Analysis, DNA Thyroid Neoplasms / genetics*, pathology, therapy |
| Chemical | |
Reg. No./Substance:
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0/RNA, Neoplasm; 0/Receptors, Thyrotropin |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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