Two somatic TSH receptor mutations in a patient with toxic metastasising follicular thyroid carcinoma and non-functional lung metastases.

in Endocrine-Related Cancer
Authors:
D Führer III Medical Department,University of Leipzig, Leipzig, Germany.

Search for other papers by D Führer in
Current site
Google Scholar
PubMed
Close
,
A Tannapfel III Medical Department,University of Leipzig, Leipzig, Germany.

Search for other papers by A Tannapfel in
Current site
Google Scholar
PubMed
Close
,
O Sabri III Medical Department,University of Leipzig, Leipzig, Germany.

Search for other papers by O Sabri in
Current site
Google Scholar
PubMed
Close
,
P Lamesch III Medical Department,University of Leipzig, Leipzig, Germany.

Search for other papers by P Lamesch in
Current site
Google Scholar
PubMed
Close
, and
R Paschke III Medical Department,University of Leipzig, Leipzig, Germany.

Search for other papers by R Paschke in
Current site
Google Scholar
PubMed
Close
Free access

Sign up for journal news

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.

 

  • Collapse
  • Expand