What is medullary thyroid cancer ?

Medullar thyroid cancer is a neuroendocrine tumour arising from   the parafollicular or C-  cells of the thyroid gland.


How common is it and at what age does it occur?

It is a rare tumour, accounting for 5% of all thyroid cancers. In the majority of cases, the tumour is sporadic, with a peak incidence at 40-60 years of age.


Is this cancer inherited and how it presents?

However, in 25% of cases, it is inherited as an autosomal dominant manner, meaning that about 50% of the offspring will inherit the disease from the parent carrying the mutation. The inherited medullary thyroid cancer presents as either familial medullary thyroid cancer without other accompanying endocrine tumors, or in the form of multiple endocrine neoplasia genetic syndromes that appear much earlier in life, even in childhood:

  • MEN2A and
  • MEN2B

What are the signs and symptoms of medullary thyroid cancer?

  • A thyroid nodule
  • Swollen cervical lymph nodes
  • Difficulty in swallowing
  • Hoarseness
  • Diarrhoea
  • Flashes

How is medullary thyroid cancer diagnosed?

The diagnosis of medullary thyroid cancer is made by fine needle aspiration (FNA) and calcitonin measurement, followed by genetic analysis (DNA) to exclude hereditary disease. The extent of the disease and any possible metastases is investigated by different imaging modalities.


How is medullary thyroid cancer treated?

The treatment of choice includes total thyroidectomy with lymph node dissection, the extent of which depends on the presence of metastases. In case of relapse, residual disease or metastases, a combination of surgeries, radiation, and newer targeted systemic therapies are implemented. Regular monitoring and follow-up allow the early diagnosis of possible relapses, while in the inherited form, allows the early diagnosis and treatment of the multiple tumors.


What should the mutation carriers do?

In all carriers of the mutations causing the disease, prophylactic total thyroidectomy in childhood is recommended as the tumor can occur even in the first year of life.