THE MOLECULAR-GENETICS OF MULTIPLE ENDOCRINE NEOPLASIA TYPE 2A AND RELATED SYNDROMES

Identification of RET gene mutations in patients at-risk for the devel opment of the hereditary forms of medullary thyroid carcinoma has simp lified management and expanded the scope of indications for surgical i ntervention. Patients who carry this mutation can be offered thyroidec tomy at a very young age, hopefully at a point when the cancer has not yet developed or spread. Those who are found not to have inherited th e mutation are spared further genetic and biochemical screening. This achievement marks a new paradigm in surgery-the recommendation that an operation be performed based on the result of a genetic test. Experie nce with management of patients with multiple endocrine neoplasia type s 2A and 2B and with familial, non-multiple endocrine neoplasia medull ary thyroid carcinoma will provide information that wilt aid in the fu ture management of patients with other hereditary cancers.