Medullary thyroid cancer is a rare type of thyroid cancer that originates in the C-cells of the thyroid gland. It is usually discovered as a lump or nodule in the neck during routine examination or imaging studies. In some cases, it may have spread to the lymph nodes in the neck, causing them to become larger. It can be inherited or sporadic, and its aggressive behavior is associated with clinical presentation and type of mutation in RET.
Early diagnosis and treatment are critical for a 100% cure rate. In inherited forms of medullary thyroid cancer, the growth of these cells is due to a mutation in the RET gene that was inherited. This mutated gene may first cause a premalignant condition called C-cell hyperplasia. In sporadic forms of medullary thyroid cancer, C-cell hyperplasia is almost never observed. Growing C cells can form a lump or nodule anywhere in the thyroid gland. Patients may not be diagnosed unless the cancer has spread to the lymph nodes in the neck and presents with a “lump” in the neck.
Symptoms may include a lump in the throat when swallowing, new hoarseness or new cough, and diarrhea. Blood calcitonin levels can be used to make the diagnosis and look for recurrences of medullary thyroid cancer. Total thyroidectomy remains the ideal treatment option for medullary thyroid cancer. For people with the hereditary form, genetic counseling and testing is available to test for other family members who may have the underlying genetic condition that leads to medullary thyroid cancer. Most patients with medullary thyroid cancer have no symptoms, so it is important to be aware of any changes in your body and seek medical attention if necessary. The Medullary Thyroid Carcinoma Registry (MTC) Consortium has partnered with the American Thyroid Association (ATA) to create a registry (list) of all new cases of MTC diagnosed in the United States over the next 10-15 years (the MTC Registry).