Sporadic Nonautoimmune Congenital Hyperthyroidism due to a Strong Activating Mutation of the Thyrotropin Receptor Gene

Thyroid ◽  
2000 ◽  
Vol 10 (10) ◽  
pp. 859-863 ◽  
Author(s):  
M. Tonacchera ◽  
P. Agretti ◽  
V. Rosellini ◽  
G. Ceccarini ◽  
A. Perri ◽  
...  
Keyword(s):  
Receptor Gene ◽  
Thyrotropin Receptor ◽  
Activating Mutation

scholarly journals Detection of an Activating Mutation of the Thyrotropin Receptor in a Case of an Autonomously Hyperfunctioning Thyroid Insular Carcinoma1

1997 ◽  
Vol 82 (3) ◽  
pp. 735-738 ◽  
Author(s):  
Diego Russo ◽  
Salvatore Tumino ◽  
Franco Arturi ◽  
Paolo Vigneri ◽  
Giuseppe Grasso ◽  
...  
Keyword(s):  
Lymph Node ◽  
Receptor Gene ◽  
Tsh Receptor ◽  
Base Substitution ◽  
Thyrotropin Receptor ◽  
Malignant Phenotype ◽  
Node Metastasis ◽  
Activating Mutation ◽  
Well Differentiated ◽  
Tsh Receptor Mutation

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.

scholarly journals Novel germline mutation (Leu512Met) in the thyrotropin receptor gene (TSHR) leading to sporadic non-autoimmune hyperthyroidism

2017 ◽  
Vol 30 (3) ◽  
Author(s):  
Stephanie A. Roberts ◽  
Jennifer E. Moon ◽  
Andrew Dauber ◽  
Jessica R. Smith
Keyword(s):  
Autosomal Dominant ◽  
De Novo ◽  
Receptor Gene ◽  
De Novo Mutation ◽  
Thyrotropin Receptor ◽  
Peripheral Blood Leukocytes ◽  
Blood Leukocytes ◽  
Activating Mutation ◽  
Neonatal Hyperthyroidism ◽  
Exon 10

AbstractBackground:Primary nonautoimmune hyperthyroidism is a rare cause of neonatal hyperthyroidism. This results from an activating mutation in the thyrotropin-receptor (TSHR). It can be inherited in an autosomal dominant manner or occur sporadically as a de novo mutation. Affected individuals display a wide phenotype from severe neonatal to mild subclinical hyperthyroidism. We describe a 6-month-old boy with a de novo mutation in theMethods:Genomic DNA from the patient’s and parents’ peripheral blood leukocytes was extracted. Exons 9 and 10 of theResults:Sequencing exon 10 of theConclusions:The p.Leu512Met mutation (c.1534C>A) of the

Hyperthyroidism Caused by a Germline Activating Mutation of the Thyrotropin Receptor Gene: Difficulties in Diagnosis and Therapy

Thyroid ◽  
2010 ◽  
Vol 20 (3) ◽  
pp. 327-332 ◽  
Author(s):  
Rita Bertalan ◽  
Ágnes Sallai ◽  
János Sólyom ◽  
Gábor Lotz ◽  
István Szabó ◽  
...  
Keyword(s):  
Receptor Gene ◽  
Thyrotropin Receptor ◽  
Diagnosis And Therapy ◽  
Activating Mutation

scholarly journals A Japanese family with nonautoimmune hyperthyroidism caused by a novel heterozygous thyrotropin receptor gene mutation

2014 ◽  
Vol 75 (6) ◽  
pp. 749-753 ◽  
Author(s):  
Akie Nakamura ◽  
Shuntaro Morikawa ◽  
Hayato Aoyagi ◽  
Katsura Ishizu ◽  
Toshihiro Tajima
Keyword(s):  
Gene Mutation ◽  
Receptor Gene ◽  
Thyrotropin Receptor ◽  
Japanese Family

scholarly journals A Somatic Gain-of-Function Mutation in the Thyrotropin Receptor Gene Producing a Toxic Adenoma in an Infant

Thyroid ◽  
2009 ◽  
Vol 19 (2) ◽  
pp. 187-191 ◽  
Author(s):  
Brenda Kohn ◽  
Helmut Grasberger ◽  
Leslie L. Lam ◽  
Alfonso Massimiliano Ferrara ◽  
Samuel Refetoff
Keyword(s):  
Receptor Gene ◽  
Thyrotropin Receptor ◽  
Toxic Adenoma ◽  
Gain Of Function
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