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Authors: Karin FrankRaue Friedhelm Raue
Publish Date: 2015
Volume: , Issue: , Pages: 139-156
Abstract
During the last two decades there has been a marked expansion of our knowledge of both the basic and clinical aspects of multiple endocrine neoplasia type 2 MEN2 There are two clinically distinct types of MEN2 syndrome termed MEN2A and MEN2B Within MEN2A there are four variants i classical MEN2A represented by the uniform presence of MTC and the less frequent occurrence of pheochromocytoma or primary hyperparathyroidism or both ii MEN2A with cutaneous lichen amyloidosis iii MEN2A with Hirschsprung’s disease and iv familial medullary thyroid carcinoma FMTC ie families or individuals with only MTC MEN2B is associated with MTC pheochromocytoma and mucosal neuromas Hereditary MTC is caused by autosomal dominant gain of function mutations in the RET protooncogene Specific RET mutations may suggest a predilection toward a particular phenotype and clinical course with a strong genotype–phenotype correlation Based upon these genotype–phenotype correlations RET mutations are now stratified into three risk levels ie highest high and moderate risk based on the penetrance and aggressiveness of the MTC Children in the highest risk category should undergo thyroidectomy in their first year of life and perhaps even in their first months of life Children in the highrisk category should have ultrasound of the neck and calcitonin CTN measurement performed prior to thyroidectomy Thyroidectomy should typically be performed at the age of 5 or earlier depending on the presence of elevated serum CTN levels However heterogeneity in disease expression and progression within these groups varies considerably To personalize disease management the decision regarding the age of prophylactic thyroidectomy is no longer based upon genotype alone but is currently driven by additional clinical data the most important being serum CTN levels specifically the decision to perform thyroidectomy should err on the safe side if the CTN level is elevated but below 30 pg/ml especially in the moderate risk group Personalized management also includes decisions about the best age to begin biochemical screening for pheochromocytoma and primary hyperparathyroidism
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