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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Detalles Bibliográficos
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
Descripción
Sumario: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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