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Treatment of Medullary Thyroid Carcinoma
Screening for Familial Medullary Thyroid Carcinoma
In 1993, specific germline (inherited) mutations were identified in patients with familial MTC, MEN-2A, and MEN-2B. These specific mutations involve a cancer gene called the RET protooncogene which can be identified in over 90% of patients with familial MTC. This discovery led to the development of a screening test to identify family members who are genetic carriers of the RET protooncogene mutation who are at high risk for developing MTC and pheochromocytoma.
Screening for the RET mutation enables doctors to identify family members who are gene carriers and are at high risk for developing MTC. Adults who test positive for the RET protooncogene mutation should be offered the option of undergoing a total thyroidectomy with central lymph node dissection to prevent the development of MTC. The current recommendation is to also screen children of parents who are carriers of the RET mutation before they reach age 5. If a child tests positive for the RET mutation, they should also be offered the option of a total thyroidectomy with central lymph node dissection as a means of preventing MTC before it develops.
