MEN-2-Syndrom: Was gibt es Neues?

Multiple Endocrine Neoplasia Type 2 (MEN-2): An Update. Multiple endocrine neoplasia type 2 (MEN-2) is an autosomal dominant hereditary cancer syndrome. The disorder is caused by missense mutations of the RET proto-oncogene that result in their gain of function. Three distinct clinical subtypes of MEN-2 are characterized: MEN-2A, MEN-2B, and familial MTC (FMTC). The precise RET mutations may suggest a predilection toward a particular phenotype and clinical course. In RET mutation carriers, an age-related progression has been documented from normal C-cells to premalignant C-cell hyperplasia (CCH) and fi nally to MTC with or without cervical lymph node metastases. The time required for this neoplastic development as well as penetrance and aggressiveness of disease mainly depends on the specifi c RET mutation with a strong genotype-phenotype correlation. Recommendations for the timing of prophylactic thyroidectomy are based upon a model that utilizes these genotype-phenotype correlations to stratify mutations into 4 risk levels. The excellent prognosis for MTC diagnosed at its earliest stage underscores the importance of early diagnosis by RET mutation analysis for hereditary MTC. J Klin Endokrinol Stoffw 2011; 4 (3): 8–11.