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Diagnosis and Treatment > Signs and Symptoms

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Jin-Ying Lu Division of Endocrinology and Metabolism, Department of Internal Medicine, National Taiwan University Hospital, Taipei, 100, Taiwan

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Po-Ju Hung Division of Endocrinology and Metabolism, Department of Internal Medicine, National Taiwan University Hospital, Taipei, 100, Taiwan

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Pei-Lung Chen Division of Endocrinology and Metabolism, Department of Internal Medicine, National Taiwan University Hospital, Taipei, 100, Taiwan
Department of Medical Genetics, National Taiwan University Hospital, Taipei, 100, Taiwan
Graduate Institute of Medical Genomics and Proteomics, National Taiwan University, Taipei, 100, Taiwan
Graduate Institute of Clinical Medicine, National Taiwan University, Taipei, 100, Taiwan
Research Center for Developmental Biology and Regenerative Medicine, National Taiwan University, Taipei, 100, Taiwan

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Ruoh-Fang Yen Department of Nuclear Medicine, National Taiwan University, Taipei, 100, Taiwan

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Kuan-Ting Kuo Graduate Institute of Pathology, College of Medicine, National Taiwan University, Taipei, 100, Taiwan
Department of Pathology, National Taiwan University Hospital, Taipei, 100, Taiwan

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Tsung-Lin Yang Department of Otolaryngology, National Taiwan University Hospital, Taipei, 100, Taiwan

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Chih-Yuan Wang Division of Endocrinology and Metabolism, Department of Internal Medicine, National Taiwan University Hospital, Taipei, 100, Taiwan

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Tien-Chun Chang Division of Endocrinology and Metabolism, Department of Internal Medicine, National Taiwan University Hospital, Taipei, 100, Taiwan
Department of Medicine, College of Medicine, National Taiwan University, Taipei, 100, Taiwan

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Tien-Shang Huang Division of Endocrinology and Metabolism, Department of Internal Medicine, National Taiwan University Hospital, Taipei, 100, Taiwan
Department of Medicine, College of Medicine, National Taiwan University, Taipei, 100, Taiwan
Department of Social Medicine, College of Medicine, National Taiwan University, Taipei, 100, Taiwan
Department of Medicine, Cathay General Hospital, Taipei, 106, Taiwan

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Ching-Chung Chang Division of Endocrinology and Metabolism, Department of Internal Medicine, National Taiwan University Hospital, Taipei, 100, Taiwan
Department of Medicine, College of Medicine, National Taiwan University, Taipei, 100, Taiwan
Department of Internal Medicine, China Medical University Hospital, Taichung, 404, Taiwan
Department of Internal Medicine, China Medical University, Taichung, 404, Taiwan

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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.

Taxonomy:
Clinical Overview, Gland/Organ, Thyroid, Topic, Thyroid, Hormone, Thyroxine (T4), TSH, Condition/ Syndrome, Follicular thyroid cancer, Graves' disease, Metastatic carcinoma, Patient Demographics, Age, Adult, Gender, Male, Ethnicity, Asian - Chinese, Country of Treatment, Taiwan, Province of China, Diagnosis and Treatment, Signs and Symptoms, Dysphonia, Goitre, Hepatic cysts, Vocal cord paresis, Investigation, CT scan, DNA sequencing, Endoscopy, Fine needle aspiration biopsy, FT4, Genetic analysis, MRI, Radionuclide imaging, SPECT scan, Thyroglobulin, TSH, TSH receptor antibodies, Ultrasound scan, Intervention, Diet, Lymph node dissection, Radionuclide therapy, Thyroidectomy, Medication, Albumin, Levothyroxine, Thyrotropin alpha, Related Disciplines, Otolaryngology, Publication Details, Case Report Type, Insight into disease pathogenesis or mechanism of therapy
DOI:
https://doi.org/10.1530/EDM-15-0067
Volume/Issue:
Volume 2016: Issue 1
Open access