Resistance to thyroid hormone beta coexisting with papillary thyroid carcinoma—two case reports of a thyroid hormone receptor beta gene mutation and a literature review
Resistance to thyroid hormone beta (RTHβ) is an autosomal dominant hereditary disorder that is difficult to diagnose because of its rarity and variable clinical features, which are caused by mutations in the thyroid hormone receptor beta (THRB) gene. Recent studies have indicated a close association...
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| Format: | Article |
| Language: | English |
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Frontiers Media S.A.
2022-12-01
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| Series: | Frontiers in Genetics |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fgene.2022.1014323/full |
| _version_ | 1798014453467316224 |
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| author | Yingxin Fang Tingting Liu Huimin Hou Zhihong Wang Zhongyan Shan Yanli Cao Xiaochun Teng |
| author_facet | Yingxin Fang Tingting Liu Huimin Hou Zhihong Wang Zhongyan Shan Yanli Cao Xiaochun Teng |
| author_sort | Yingxin Fang |
| collection | DOAJ |
| description | Resistance to thyroid hormone beta (RTHβ) is an autosomal dominant hereditary disorder that is difficult to diagnose because of its rarity and variable clinical features, which are caused by mutations in the thyroid hormone receptor beta (THRB) gene. Recent studies have indicated a close association between THRB mutations and human cancers, but the mechanistic role of THRB mutations in carcinogenesis is unknown. Herein, we report two cases of RTHβ coexisting with papillary thyroid carcinoma (PTC) and their follow-up results. Two female patients presented with elevated serum thyroid hormone levels and nonsuppressed thyrotropin (TSH). Genetic analysis showed that each patient had a THRB gene mutation (p.P453T and p. R320H). Based on the results of ultrasound-guided fine-needle aspiration biopsy, the thyroid nodules were suspected to be PTC. Intraoperative pathology confirmed that the two patients had PTC with multifocal carcinoma of both lobes. One patient underwent total thyroidectomy and central lymph node dissection, and the other underwent total thyroidectomy alone. Following surgery, large doses of levothyroxine were administered to suppress TSH levels and prevent recurrent or persistent disease. However, it is difficult to continually suppress TSH levels below the upper limit of the normal range. To date, the two patients have experienced no recurrence of PTC on ultrasound. |
| first_indexed | 2024-04-11T15:18:29Z |
| format | Article |
| id | doaj.art-cafaaea3557d4f2ba13363695bf991b5 |
| institution | Directory Open Access Journal |
| issn | 1664-8021 |
| language | English |
| last_indexed | 2024-04-11T15:18:29Z |
| publishDate | 2022-12-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Genetics |
| spelling | doaj.art-cafaaea3557d4f2ba13363695bf991b52022-12-22T04:16:26ZengFrontiers Media S.A.Frontiers in Genetics1664-80212022-12-011310.3389/fgene.2022.10143231014323Resistance to thyroid hormone beta coexisting with papillary thyroid carcinoma—two case reports of a thyroid hormone receptor beta gene mutation and a literature reviewYingxin Fang0Tingting Liu1Huimin Hou2Zhihong Wang3Zhongyan Shan4Yanli Cao5Xiaochun Teng6Department of Endocrinology and Metabolism, Institute of Endocrine, NHC Key Laboratory of Diagnosis and Treatment of Thyroid Diseases, The First Hospital of China Medical University, Shenyang, ChinaDepartment of Endocrinology and Metabolism, Institute of Endocrine, NHC Key Laboratory of Diagnosis and Treatment of Thyroid Diseases, The First Hospital of China Medical University, Shenyang, ChinaDepartment of Endocrinology and Metabolism, Institute of Endocrine, NHC Key Laboratory of Diagnosis and Treatment of Thyroid Diseases, The First Hospital of China Medical University, Shenyang, ChinaDepartment of Thyroid Surgery, The First Hospital of China Medical University, Shenyang, ChinaDepartment of Endocrinology and Metabolism, Institute of Endocrine, NHC Key Laboratory of Diagnosis and Treatment of Thyroid Diseases, The First Hospital of China Medical University, Shenyang, ChinaDepartment of Endocrinology and Metabolism, Institute of Endocrine, NHC Key Laboratory of Diagnosis and Treatment of Thyroid Diseases, The First Hospital of China Medical University, Shenyang, ChinaDepartment of Endocrinology and Metabolism, Institute of Endocrine, NHC Key Laboratory of Diagnosis and Treatment of Thyroid Diseases, The First Hospital of China Medical University, Shenyang, ChinaResistance to thyroid hormone beta (RTHβ) is an autosomal dominant hereditary disorder that is difficult to diagnose because of its rarity and variable clinical features, which are caused by mutations in the thyroid hormone receptor beta (THRB) gene. Recent studies have indicated a close association between THRB mutations and human cancers, but the mechanistic role of THRB mutations in carcinogenesis is unknown. Herein, we report two cases of RTHβ coexisting with papillary thyroid carcinoma (PTC) and their follow-up results. Two female patients presented with elevated serum thyroid hormone levels and nonsuppressed thyrotropin (TSH). Genetic analysis showed that each patient had a THRB gene mutation (p.P453T and p. R320H). Based on the results of ultrasound-guided fine-needle aspiration biopsy, the thyroid nodules were suspected to be PTC. Intraoperative pathology confirmed that the two patients had PTC with multifocal carcinoma of both lobes. One patient underwent total thyroidectomy and central lymph node dissection, and the other underwent total thyroidectomy alone. Following surgery, large doses of levothyroxine were administered to suppress TSH levels and prevent recurrent or persistent disease. However, it is difficult to continually suppress TSH levels below the upper limit of the normal range. To date, the two patients have experienced no recurrence of PTC on ultrasound.https://www.frontiersin.org/articles/10.3389/fgene.2022.1014323/fullresistance to thyroid hormonepapillary thyroid carcinomaTHRB gene mutationTSH suppression therapythyroid hormone receptor |
| spellingShingle | Yingxin Fang Tingting Liu Huimin Hou Zhihong Wang Zhongyan Shan Yanli Cao Xiaochun Teng Resistance to thyroid hormone beta coexisting with papillary thyroid carcinoma—two case reports of a thyroid hormone receptor beta gene mutation and a literature review Frontiers in Genetics resistance to thyroid hormone papillary thyroid carcinoma THRB gene mutation TSH suppression therapy thyroid hormone receptor |
| title | Resistance to thyroid hormone beta coexisting with papillary thyroid carcinoma—two case reports of a thyroid hormone receptor beta gene mutation and a literature review |
| title_full | Resistance to thyroid hormone beta coexisting with papillary thyroid carcinoma—two case reports of a thyroid hormone receptor beta gene mutation and a literature review |
| title_fullStr | Resistance to thyroid hormone beta coexisting with papillary thyroid carcinoma—two case reports of a thyroid hormone receptor beta gene mutation and a literature review |
| title_full_unstemmed | Resistance to thyroid hormone beta coexisting with papillary thyroid carcinoma—two case reports of a thyroid hormone receptor beta gene mutation and a literature review |
| title_short | Resistance to thyroid hormone beta coexisting with papillary thyroid carcinoma—two case reports of a thyroid hormone receptor beta gene mutation and a literature review |
| title_sort | resistance to thyroid hormone beta coexisting with papillary thyroid carcinoma two case reports of a thyroid hormone receptor beta gene mutation and a literature review |
| topic | resistance to thyroid hormone papillary thyroid carcinoma THRB gene mutation TSH suppression therapy thyroid hormone receptor |
| url | https://www.frontiersin.org/articles/10.3389/fgene.2022.1014323/full |
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