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Advances in the management of hereditary medullary thyroid cancer

2004; Wiley; Volume: 257; Issue: 1 Linguagem: Inglês

10.1111/j.1365-2796.2004.01423.x

1365-2796

Andreas Machens, Jörg Ukkat, Michael Brauckhoff, Oliver Gimm, Henning Dralle,

Hedgehog Signaling Pathway Studies

Abstract. This work draws on recent advances during the era of codon‐oriented prophylactic surgery for hereditary medullary thyroid cancer (MTC). Milestones included identification of RET (REarranged during Transfection) as the susceptibility gene, introduction of prophylactic surgery on evidence of a RET germline mutation, revelation of genotype–phenotype correlations within the MEN 2 spectrum and demonstration of age‐related progression of MTC. Novel surgical techniques, notably systemic microdissection and compartment‐oriented surgery, have greatly enhanced surgical cure. Uncovering molecular pathways from RET genotype to MEN 2 phenotype should provide treatment options for RET mutation carriers whose MTC currently is too advanced for cure.