Open Access

BRAFV600E mutation contributes papillary thyroid carcinoma and Hashimoto thyroiditis with resistance to thyroid hormone: A case report and literature review

  • Authors:
    • Wanjia Xing
    • Xiaohong Liu
    • Qingqing He
    • Zongjing Zhang
    • Zhaoshun Jiang
  • View Affiliations

  • Published online on: June 28, 2017     https://doi.org/10.3892/ol.2017.6486
  • Pages: 2903-2911
  • Copyright: © Xing et al. This is an open access article distributed under the terms of Creative Commons Attribution License.

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Abstract

Resistance to thyroid hormone (RTH) is a rare autosomal hereditary disorder characterized by increased serum thyroid hormone (TH) levels with unsuppressed or increased thyrotropin concentration. It remains unknown whether the coexistence of RTH with papillary thyroid carcinoma (PTC) and Hashimoto thyroiditis (HT) is incidental or whether it possesses a genetic or pathophysiological association. In the present study, a case of RTH with PTC and HT in an 11‑year‑old Chinese patient was examined and the clinical presentation of RTH with PTC was discussed. In addition, the possible associations between RTH, PTC and HT were determined. HT was confirmed in the patient using an autoimmune assay and thyroid ultrasound. RTH was diagnosed on the basis of clinical manifestations, laboratory information and gene analysis, and PTC was diagnosed according to histological results. Results of BRAFV600E mutation analysis were positive. A literature review of 14 cases of RTH with PTC was included for comparison. The present case report indicates an association of RTH with PTC and HT coexistence in the patient. Close follow‑up, histological evaluation and BRAFV600E mutation detection should be performed in each RTH case with HT, since a persistent increase in TSH may be a risk factor for the development of thyroid neoplasm.
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September-2017
Volume 14 Issue 3

Print ISSN: 1792-1074
Online ISSN:1792-1082

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Spandidos Publications style
Xing W, Liu X, He Q, Zhang Z and Jiang Z: BRAFV600E mutation contributes papillary thyroid carcinoma and Hashimoto thyroiditis with resistance to thyroid hormone: A case report and literature review. Oncol Lett 14: 2903-2911, 2017
APA
Xing, W., Liu, X., He, Q., Zhang, Z., & Jiang, Z. (2017). BRAFV600E mutation contributes papillary thyroid carcinoma and Hashimoto thyroiditis with resistance to thyroid hormone: A case report and literature review. Oncology Letters, 14, 2903-2911. https://doi.org/10.3892/ol.2017.6486
MLA
Xing, W., Liu, X., He, Q., Zhang, Z., Jiang, Z."BRAFV600E mutation contributes papillary thyroid carcinoma and Hashimoto thyroiditis with resistance to thyroid hormone: A case report and literature review". Oncology Letters 14.3 (2017): 2903-2911.
Chicago
Xing, W., Liu, X., He, Q., Zhang, Z., Jiang, Z."BRAFV600E mutation contributes papillary thyroid carcinoma and Hashimoto thyroiditis with resistance to thyroid hormone: A case report and literature review". Oncology Letters 14, no. 3 (2017): 2903-2911. https://doi.org/10.3892/ol.2017.6486