Follicular thyroid carcinoma with NRAS Q61K and GNAS R201H mutations that had a good (131)I treatment response

We report a case of follicular thyroid carcinoma with concomitant NRAS p.Q61K and GNAS p.R201H mutations, which manifested as a 13.5 cm thyroid mass with lung, humerus and T9 spine metastases, and exhibited good response to radioactive iodine treatment. LEARNING POINTS: GNAS p.R201H somatic mutation...

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Autores principales: Lu, Jin-Ying, Hung, Po-Ju, Chen, Pei-Lung, Yen, Ruoh-Fang, Kuo, Kuan-Ting, Yang, Tsung-Lin, Wang, Chih-Yuan, Chang, Tien-Chun, Huang, Tien-Shang, Chang, Ching-Chung
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Bioscientifica Ltd 2016
Materias:
Insight into Disease Pathogenesis or Mechanism of Therapy
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4716662/
https://www.ncbi.nlm.nih.gov/pubmed/26788326
http://dx.doi.org/10.1530/EDM-15-0067
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author Lu, Jin-Ying
Hung, Po-Ju
Chen, Pei-Lung
Yen, Ruoh-Fang
Kuo, Kuan-Ting
Yang, Tsung-Lin
Wang, Chih-Yuan
Chang, Tien-Chun
Huang, Tien-Shang
Chang, Ching-Chung
author_facet Lu, Jin-Ying
Hung, Po-Ju
Chen, Pei-Lung
Yen, Ruoh-Fang
Kuo, Kuan-Ting
Yang, Tsung-Lin
Wang, Chih-Yuan
Chang, Tien-Chun
Huang, Tien-Shang
Chang, Ching-Chung
author_sort Lu, Jin-Ying
collection PubMed
description We report a case of follicular thyroid carcinoma with concomitant NRAS p.Q61K and GNAS p.R201H mutations, which manifested as a 13.5 cm thyroid mass with lung, humerus and T9 spine metastases, and exhibited good response to radioactive iodine treatment. LEARNING POINTS: GNAS p.R201H somatic mutation is an activating or gain-of-function mutation resulting in constitutively activated Gs-alpha protein and downstream cAMP cascade, independent of TSH signaling, causing autonomously functioning thyroid nodules. NRAS p.Q61K mutations with GNAS p.R201H mutations are known for a good radioactive iodine treatment response. Further exploration of the GNAS-activating pathway may provide therapeutic insights into the treatment of metastatic follicular carcinoma.
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spelling pubmed-47166622016-01-19 Follicular thyroid carcinoma with NRAS Q61K and GNAS R201H mutations that had a good (131)I treatment response Lu, Jin-Ying Hung, Po-Ju Chen, Pei-Lung Yen, Ruoh-Fang Kuo, Kuan-Ting Yang, Tsung-Lin Wang, Chih-Yuan Chang, Tien-Chun Huang, Tien-Shang Chang, Ching-Chung Endocrinol Diabetes Metab Case Rep Insight into Disease Pathogenesis or Mechanism of Therapy We report a case of follicular thyroid carcinoma with concomitant NRAS p.Q61K and GNAS p.R201H mutations, which manifested as a 13.5 cm thyroid mass with lung, humerus and T9 spine metastases, and exhibited good response to radioactive iodine treatment. LEARNING POINTS: GNAS p.R201H somatic mutation is an activating or gain-of-function mutation resulting in constitutively activated Gs-alpha protein and downstream cAMP cascade, independent of TSH signaling, causing autonomously functioning thyroid nodules. NRAS p.Q61K mutations with GNAS p.R201H mutations are known for a good radioactive iodine treatment response. Further exploration of the GNAS-activating pathway may provide therapeutic insights into the treatment of metastatic follicular carcinoma. Bioscientifica Ltd 2016-01-05 2016 /pmc/articles/PMC4716662/ /pubmed/26788326 http://dx.doi.org/10.1530/EDM-15-0067 Text en © 2016 The authors This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivs 3.0 Unported License (http://creativecommons.org/licenses/by-nc-nd/3.0/deed.en_GB) .
spellingShingle Insight into Disease Pathogenesis or Mechanism of Therapy
Lu, Jin-Ying
Hung, Po-Ju
Chen, Pei-Lung
Yen, Ruoh-Fang
Kuo, Kuan-Ting
Yang, Tsung-Lin
Wang, Chih-Yuan
Chang, Tien-Chun
Huang, Tien-Shang
Chang, Ching-Chung
Follicular thyroid carcinoma with NRAS Q61K and GNAS R201H mutations that had a good (131)I treatment response
title Follicular thyroid carcinoma with NRAS Q61K and GNAS R201H mutations that had a good (131)I treatment response
title_full Follicular thyroid carcinoma with NRAS Q61K and GNAS R201H mutations that had a good (131)I treatment response
title_fullStr Follicular thyroid carcinoma with NRAS Q61K and GNAS R201H mutations that had a good (131)I treatment response
title_full_unstemmed Follicular thyroid carcinoma with NRAS Q61K and GNAS R201H mutations that had a good (131)I treatment response
title_short Follicular thyroid carcinoma with NRAS Q61K and GNAS R201H mutations that had a good (131)I treatment response
title_sort follicular thyroid carcinoma with nras q61k and gnas r201h mutations that had a good (131)i treatment response
topic Insight into Disease Pathogenesis or Mechanism of Therapy
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4716662/
https://www.ncbi.nlm.nih.gov/pubmed/26788326
http://dx.doi.org/10.1530/EDM-15-0067
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