Diagnostic Considerations
The differential diagnosis of MEN2 is extensive and encompasses all of its components. Note the following:
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Medullary thyroid carcinoma should be considered in any patient with suspicious thyroid nodules
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Hereditary pheochromocytomas may occur with the following conditions: Von Hippel-Lindau syndrome, von Recklinghausen disease (neurofibromatosis), Sturge-Weber syndrome, tuberous sclerosis
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Hereditary hyperparathyroidism may occur with the following conditions: Multiple endocrine neoplasia type 1 (MEN1), familial hyperparathyroidism, familial hypocalciuric hypercalcemiasture
Differential Diagnoses
Tables
Risk Level |
RET codon Mutation |
Possible Diagnoses |
Prophylactic Thyroidectomy Recommendations |
Follow-up |
Highest Risk (HST) |
M918T+All MEN2B |
MEN2B |
Within the first year of life or the first months of life based upon specialist and parental discussions. The ability to identify and preserve or transplant parathyroid glands determines level VI dissection. |
Physical exam, neck US, serum Ctn, and serum CEA every 6 mos first year, then annually; begin screening for pheochromocytoma at age 11 yr |
High Risk (H) |
C634, A883F |
MEN2A |
At or before age 5 yr, to be determined on the basis of serum Ctn |
Physical exam, neck US, serum Ctn, and serum CEA every 6 mos first year, then annually. Begin screening for pheochromocytoma at age 11. |
Moderate Risk (MOD) |
All other mutations |
MEN2A |
When serum Ctn becomes elevated or in childhood to avoid lengthy evaluation period. |
Evaluate every 6 months for 1 year. Annual follow-ups thereafter if serum Ctn is normal or undetectable. Begin screening for pheochromocytoma at age 16 yr |
