In:
Endocrinology, Diabetes & Metabolism Case Reports, Bioscientifica, Vol. 2016 ( 2016-01-1)
Abstract:
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.
Type of Medium:
Online Resource
ISSN:
2052-0573
Language:
Unknown
Publisher:
Bioscientifica
Publication Date:
2016
detail.hit.zdb_id:
2785530-2
Permalink