GENOTYPE-PHENOTYPE CORRELATION IN MULTIPLE ENDOCRINE NEOPLASIA TYPE-2- REPORT OF THE INTERNATIONAL-RET-MUTATION-CONSORTIUM

The International RET Mutation Consortium was first convened as part o f the Fifth International Workshop on Multiple Endocrine Neoplasia, St ockholm, Sweden, in an attempt to analyse the relationship of RET muta tion and disease phenotype in the autosomal dominantly inherited multi ple endocrine neoplasia type 2 (MEN 2) syndromes. Out of 361 families studied, 41% had MEN 2A, 17.7% MEN 2B, 6.4% FMTC and the remaining sub jects were unclassified, RET mutations were detected in 87.3% of famil ies overall. Over 93% of MEN 2B families had the RET 918 ATG --> ACG m utation, while the most frequent mutation detected in MEN 2A families was cysteine codon 634 (87% of all mutations).