Diagnosis and management of MEN 2 has evolved considerably since the identification of the underlying disease mutations in the RET proto-oncogene. Presymptomatic detection and prophylactic surgical intervention are now the accepted standard of care. The strong correlation of disease phenotype and mutation genotype has already also allowed us to develop mutation-guided management strategies to optimize time of intervention and schedule follow-up and management. As our understanding of the depth of these correlations increases we look forward to better refining our management regimes to fit both the best care requirements and the quality of life needs of the MEN 2 patient.
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