Follicular thyroid carcinoma with NRAS Q61K and GNAS R201H mutations that had a good 131I treatment response. (1st January 2016)

• Record Type: Journal Article
• Authors: 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
• Is Part Of: Endocrinology, diabetes & metabolism case reports. (2016)
• Publication Date: 2016-01-01
• Subjects: Adult -- Male -- Asian - Chinese -- Taiwan, Province of China; Thyroid -- Thyroid -- TSH -- Thyroxine (T4) -- Follicular thyroid cancer -- Graves' disease -- Metastatic carcinoma -- Thyroid cancer; Goitre -- Dysphonia -- Vocal cord paresis -- Hepatic cysts -- FT4 -- TSH -- TSH receptor antibodies -- Ultrasound scan -- Thyroglobulin -- MRI -- CT scan -- Fine needle aspiration biopsy -- Radionuclide imaging -- SPECT scan -- DNA sequencing -- Endoscopy -- Genetic analysis -- Thyroidectomy -- Radionuclide therapy -- Diet -- Lymph node dissection -- Albumin -- Thyrotropin alpha -- Levothyroxine; Otolaryngology; Insight into disease pathogenesis or mechanism of therapy -- January -- 2016; Endocrinology -- Periodicals; Diabetes -- Periodicals; Diabetes Mellitus; Endocrinology; Diabetes; Endocrinology; Case Reports; Periodicals; Periodicals; 616.4
• DOI: 10.1530/EDM-15-0067
• Languages: English
• ISSNs: 2052-0573

Abstract

Summary: 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.