Detectarea mutaţiei germline RET proto-oncogene, care predispune la neoplazie endocrină multiplă de tip 2 (MEN 2), a permis un diagnostic precoce şi un tratament chirurgical profi lactic pentru pacienţii cu aceste mutaţii.

The detection of germline mutations in the RET proto-oncogene, predisposing to multiple endocrine neoplasia type 2 (MEN 2), has allowed an early diagnosis and prophylactic surgery treatment for the patients with these mutations. Among 68 patients with medullary thyroid carcinoma (MTC) were identifi ed 24,9% hereditary forms MTS such as MEN2A (7,4%), NEN2B (11,7%), familial MTC (4,4%) and MTS as component of neurofi bromatosis (1,4%). Two different germline RET mutations at the codon 634 were revealed in 12 patients with MEN2A. From all the patients with MEN 2B the same mutations at the codon 918 were identifi ed, but the germline mutation in this gene of their mothers was not revealed. Persons with syndrome familial MTC had mutation at the codon 634. Direct DNA analysis for mutations in the RET proto-oncogene has identifi ed 8 relatives as gene carriers of MEN 2A in whom thyroid carcinoma will develop. Of these 6 patients underwent thyroidectomy. Two of them (3,5 and 9 years) presented prophylactic surgery, the other four (14 years and older) had thyroidectomy at the early stage of the disease. The youngest patients have the best therapeutic results after surgery. A median follow-up of 5 years (ranged from 2 to 8 years), all patients were well and cancer free. Correlation between specifi c RET mutation and effect of the pace of malignant progression was analyzed.