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Coexistence of resistance to thyroid hormone and papillary thyroid carcinoma
Motoyuki Igata1, Kaku Tsuruzoe1, Junji Kawashima1
1Faculty of Life Sciences, Department of Metabolic Medicine, Kumamoto University , 1-1-1 Honjo, Chuo-ku, Kumamoto, 860-8556 , Japan.
Unlabelled:
Resistance to thyroid hormone (RTH) is a syndrome of reduced tissue responsiveness to thyroid hormones. RTH is majorly caused by mutations in the thyroid hormone receptor beta (THRB) gene. Recent studies indicated a close association of THRB mutations with human cancers, but the role of THRB mutation in carcinogenesis is still unclear. Here, we report a rare case of RTH with a papillary thyroid carcinoma (PTC). A 26-year-old woman was referred to our hospital due to a thyroid tumor and hormonal abnormality. She had elevated serum thyroid hormones and non-suppressed TSH levels. Genetic analysis of THRB identified a missense mutation, P452L, leading to a diagnosis of RTH. Ultrasound-guided fine-needle aspiration biopsy of the tumor and lymph nodes enabled the cytological diagnosis of PTC with lymph node metastases. Total thyroidectomy and neck lymph nodes dissection were performed. Following surgery, thyroxine replacement (≥500 μg) was necessary to avoid the symptoms of hypothyroidism and to maintain her TSH levels within the same range as before the operation. During the follow-up, basal thyroglobulin (Tg) levels were around 6 ng/ml and TSH-stimulated Tg levels were between 12 and 20 ng/ml. Up to present, the patient has had no recurrence of PTC. This indicates that these Tg values are consistent with a biochemical incomplete response or an indeterminate response. There is no consensus regarding the management of thyroid carcinoma in patients with RTH, but aggressive treatments such as total thyroidectomy followed by radioiodine (RAI) and TSH suppression therapy are recommended.
Learning Points:
There are only a few cases reporting the coexistence of RTH and thyroid carcinoma. Moreover, our case would be the first case presenting one with lymph node metastases.Recent studies indicated a close association of THRB mutations with human cancers, but the role of THRB mutation in carcinogenesis is still unclear.When total thyroidectomy is performed in patients with RTH, a large amount of thyroxine is needed to maintain their thyroid function.There is no consensus regarding the management of thyroid carcinoma in patient with RTH, but effective treatments such as total thyroidectomy followed by RAI and TSH suppression therapy are recommended.
Insights
This study reports a rare case of resistance to thyroid hormone (RTH) in a patient who also developed papillary thyroid carcinoma with lymph node metastases. Management of thyroid cancer in RTH patients requires aggressive treatment and high thyroxine doses.
Area of Science:
- Endocrinology
- Oncology
- Genetics
Background:
- Resistance to thyroid hormone (RTH) is characterized by reduced tissue sensitivity to thyroid hormones, often due to mutations in the thyroid hormone receptor beta (THRB) gene.
- THRB mutations have been linked to various cancers, yet their precise role in carcinogenesis remains under investigation.
Purpose of the Study:
- To report a rare case of RTH coexisting with papillary thyroid carcinoma (PTC) and lymph node metastases.
- To discuss the diagnostic and therapeutic challenges in managing thyroid cancer in patients with RTH.
Main Methods:
- Case report of a 26-year-old woman diagnosed with RTH and PTC.
- Genetic analysis of the THRB gene identified a missense mutation (P452L).
- Diagnosis of PTC with lymph node metastases confirmed via ultrasound-guided fine-needle aspiration biopsy.
Main Results:
- The patient presented with elevated thyroid hormones and non-suppressed TSH levels, consistent with RTH.
- The THRB gene mutation P452L was identified.
- Papillary thyroid carcinoma with lymph node metastases was diagnosed and treated with total thyroidectomy and neck dissection.
- High-dose thyroxine replacement (≥500 μg) was required post-surgery.
- Follow-up indicated biochemical incomplete or indeterminate response to treatment, with no recurrence of PTC.
Conclusions:
- Coexistence of RTH and thyroid carcinoma is rare; this case is the first reported with lymph node metastases.
- THRB mutations' role in carcinogenesis warrants further research.
- Thyroidectomy in RTH patients necessitates substantial thyroxine supplementation.
- Aggressive treatment, including total thyroidectomy, radioiodine ablation, and TSH suppression, is recommended for thyroid carcinoma in RTH patients, despite lack of consensus.
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