NOVEL POINT MUTATION IN EXON-10 OF THE RET PROTOONCOGENE IN A FAMILY WITH MEDULLARY-THYROID CARCINOMA

Medullary thyroid carcinoma (MTC) may occur sporadically or as part of the autosomal dominant multiple endocrine neoplasia type 2 (MEN 2), T hree hereditary forms of MEN 2 have been identified: MEN 2A, MEN 2B, a nd familial MTC (FMTC), Missense germ-line mutations in the RET protoo ncogene have been identified as cause of these endocrine diseases, Mut ations are found in exons 10 and 11 in MEN 2A and FMTC families and in a small number of families in exons 13, 14, and 15, Although a strong correlation between codon mutations and phenotypes has been described , not all the expected cystein codon mutations have been found, Theref ore, the more mutations are found, the better it is possible to establ ish phenotype-genotype correlations. We report on a novel RET mutation at codon 611 in a family with MTC without other clinical manifestatio ns and of rather benign course, (C) 1998 Wiley-Liss, Inc.