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Is there a role for inherited TRβ mutation in human carcinogenesis? [corrected]
Letícia Schwerz Weinert1, Lucieli Ceolin, Mírian Romitti
1Thyroid Section, Endocrine Division, Hospital de Clínicas de Porto Alegre, RS, Brazil.
Abstract:
Resistance to thyroid hormone (RTH) is a rare autosomal dominant inherited disorder characterized by end-organ reduced sensitivity to thyroid hormone. This syndrome is caused by mutations of the thyroid hormone receptor (TR) β gene, and its clinical presentation is quite variable. Goiter is reported to be the most common finding. A close association of TRβ mutations with human cancers has become apparent, but the role of TRβ mutants in the carcinogenesis is still undefined. Moreover, higher TSH levels, described in RTH syndrome, are correlated with increased risk of thyroid malignancy, whereas TSH receptor stimulation is likely to be involved in tumor progression. We report here an illustrative case of a 29 year-old patient with RTH caused by a mutation in exon 9 (A317T) of TRβ gene, who presented multicentric papillary thyroid cancer. We review the literature on this uncommon feature, and discuss the potential role of this mutation on human tumorigenesis, as well as the challenges in patient follow-up.
Insights
Resistance to thyroid hormone (RTH) is a rare genetic disorder caused by thyroid hormone receptor beta (TRβ) gene mutations. This case highlights a patient with RTH and papillary thyroid cancer, exploring the link between TRβ mutations and tumorigenesis.
Area of Science:
- Endocrinology
- Genetics
- Oncology
Background:
- Resistance to thyroid hormone (RTH) is a rare inherited disorder due to thyroid hormone receptor (TR) β gene mutations.
- It presents with variable clinical features, commonly goiter, and reduced end-organ sensitivity to thyroid hormones.
Observation:
- A 29-year-old patient with RTH, caused by a specific TRβ gene mutation (A317T in exon 9), presented with multicentric papillary thyroid cancer.
- This case is uncommon and prompts further investigation into the association between RTH and thyroid malignancy.
Findings:
- Thyroid-stimulating hormone (TSH) levels are elevated in RTH and correlate with an increased risk of thyroid cancer.
- TRβ mutations are increasingly associated with human cancers, though their precise role in carcinogenesis remains unclear.
Implications:
- Understanding the role of TRβ mutants in tumorigenesis is crucial for defining cancer risk in RTH patients.
- This research highlights the need for careful patient follow-up and management strategies for individuals with RTH and associated thyroid abnormalities.
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