Sporadic Medullary Thyroid Cancer (Sporadic MTC)
Sporadic medullary thyroid cancer (sporadic MTC) is a type of thyroid cancer that arises from C-cells in the thyroid.
Overview
Sporadic medullary thyroid cancer (sporadic MTC) is a type of thyroid cancer that arises from C-cells in the thyroid. Unlike familial forms, sporadic MTC is not inherited and usually occurs in individuals with no family history of the condition. It accounts for the majority of medullary thyroid cancer cases.
Causes and Genetics
Sporadic MTC is typically caused by acquired (somatic) changes in the RET gene within tumour cells. These changes are not inherited and are not passed on to children. However, genetic testing is often recommended to rule out hereditary forms, as a small proportion of cases initially thought to be sporadic may have an inherited basis.
Symptoms and Features
Characteristic Symptoms and Features
- A lump or nodule in the neck
- Swelling or enlarged lymph nodes in the neck
- Hoarse voice or voice changes
- Difficulty swallowing (dysphagia)
- Difficulty breathing or a sensation of pressure in the neck
Other Associated Symptoms and Features
- Persistent diarrhoea (due to calcitonin production by the tumour)
- Flushing episodes
- No obvious symptoms in some cases, with the condition detected during imaging or blood tests performed for other reasons
Symptoms can vary and may develop gradually. Some people are diagnosed incidentally before symptoms become noticeable.
Treatment
Lifelong thyroid hormone replacement is needed after surgery. Ongoing monitoring includes calcitonin and imaging where needed.
Research and Future Directions
Research is ongoing to improve early detection and treatment of sporadic MTC. This includes better use of biomarkers such as calcitonin, advances in imaging, and development of targeted therapies that inhibit RET signalling.