Multiple Endocrine Neoplasia Type 2

What are the screening options for MEN2?

Due to the high risk of medullary thyroid cancer, RET gene testing is recommended for children at risk for any of the MEN2 subtypes. If a mutation is found, the thyroid gland should be surgically removed to prevent cancer from developing. This surgery is recommended by age 3 in children with MEN2B and by age 6 in children with MEN2A or FMTC. The procedure should be performed by a surgeon with experience in both thyroid surgery in children and with the management of medullary thyroid carcinoma.

Additional screening recommendations may include:

Yearly blood tests for ionized calcium and parathyroid hormone levels, beginning in childhood (MEN2A)

Yearly blood tests for catecholamines and catecholamine metabolites (metanephrine and normetanephrine), beginning in childhood (MEN2A, MEN2B)

Magnetic resonance imaging (MRI) or computerized tomography (CT or CAT) scan of the abdomen to detect pheochromocytomas, every two - four years or when abnormal catecholamine or metanephrine levels are detected.

Screening guidelines may change over time as new technologies are developed and more is learned about MEN2. It is important to talk with your doctor about appropriate screening tests.

What is the treatment for medullary thyroid cancer that has spread to the lymph nodes of the neck or beyond?

Surgical resection (removal) of lymph nodes in the neck and upper chest (performed by a surgeon experienced with this technique) can result in cure in 10% to 20% of cases where there is spread to neck lymph nodes. 

Recent studies of drugs that target the RET gene have shown promise for the treatment of medullary thyroid cancer that has spread to the lymph nodes, liver, lung or other sites. One of these compounds, vandetanib, was recently approved by the Food and Drug Administration (FDA) and is available as a treatment option. A second drug, cabozantanib, has recently reported positive phase III trial results and will likely be reviewed by the FDA for approval during the coming year. Other promising therapies are available through participation in a clinical trial (research study). 

What is the typical treatment for a parathyroid tumor?

Increased production of parathyroid hormone by a benign parathyroid tumor can cause hypercalcemia (high blood calcium), kidney stones, and osteoporosis (loss of bone mass). Surgical removal of the parathyroid tumor often cures the problem.