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A Rare Case of Heterozygous Gain of Function Thyrotropin Receptor Mutation Associated with Development of Thyroid Follicular Carcinoma
Joint Authors
Senniappan, Senthil
Jones, Matthew
Blackburn, James
Giri, Dinesh
Ciolka, Barbara
Gossan, Nicole
Didi, Mohammad
Waghorn, Alison
Kokai, George
Source
Issue
Vol. 2018, Issue 2018 (31 Dec. 2018), pp.1-5, 5 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2018-10-17
Country of Publication
Egypt
No. of Pages
5
Main Subjects
Abstract EN
Activating mutations in thyrotropin receptor (TSHR) have been previously described in the context of nonautoimmune hyperthyroidism and thyroid adenomas.
We describe, for the first time, a mutation in TSHR contributing to follicular thyroid carcinoma (FTC) in an adolescent.
A 12-year-old girl presented with a right-sided neck swelling, increasing in size over the previous four weeks.
Clinical examination revealed a firm, nontender thyroid nodule.
Ultrasound scan of the thyroid showed a heterogeneous highly vascular mass.
Thyroid function tests showed suppressed TSH [<0.03mU/L], normal FT4 [10.1pmol/L, 9-19], and raised FT3 [9.1pmol/L, 3.6-6.4].
Thyroid [TPO and TRAB] antibodies were negative.
A right hemithyroidectomy was performed and the histology of the sample revealed follicular carcinoma with mild to moderate nuclear pleomorphism and evidence of capsular and vascular invasion (pT1b).
Sanger sequencing of DNA extracted from the tumour tissue revealed a missense somatic mutation (c.1703T>C, p.Ile568Thr) in TSHR.
Papillary thyroid carcinomas constitute the most common thyroid malignancy in childhood, while FTC is rare.
FTC due to TSHR mutation suggests an underlying, yet to be explored, molecular pathway leading to the development of malignancy.
The case is also unique in that the clinical presentation of FTC as a toxic thyroid nodule has not been previously reported in children.
American Psychological Association (APA)
Blackburn, James& Giri, Dinesh& Ciolka, Barbara& Gossan, Nicole& Didi, Mohammad& Kokai, George…[et al.]. 2018. A Rare Case of Heterozygous Gain of Function Thyrotropin Receptor Mutation Associated with Development of Thyroid Follicular Carcinoma. Case Reports in Genetics،Vol. 2018, no. 2018, pp.1-5.
https://search.emarefa.net/detail/BIM-1143287
Modern Language Association (MLA)
Blackburn, James…[et al.]. A Rare Case of Heterozygous Gain of Function Thyrotropin Receptor Mutation Associated with Development of Thyroid Follicular Carcinoma. Case Reports in Genetics No. 2018 (2018), pp.1-5.
https://search.emarefa.net/detail/BIM-1143287
American Medical Association (AMA)
Blackburn, James& Giri, Dinesh& Ciolka, Barbara& Gossan, Nicole& Didi, Mohammad& Kokai, George…[et al.]. A Rare Case of Heterozygous Gain of Function Thyrotropin Receptor Mutation Associated with Development of Thyroid Follicular Carcinoma. Case Reports in Genetics. 2018. Vol. 2018, no. 2018, pp.1-5.
https://search.emarefa.net/detail/BIM-1143287
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1143287