Malignant progression from C-cell hyperplasia to medullary thyroid carcinoma in 167 carriers of RET germline mutations.

摘要: Abstract Background Hereditary medullary thyroid carcinoma (MTC) is the most common and potentially life-shortening phenotypic manifestation of RET (rearranged during transfection) germline mutations. If a distinct time lag between successive stages malignant progression were identifiable, information could be used to individualize prophylactic surgery. The study objective was investigate impact genotype on disease from C-cell hyperplasia (CCH) MTC. Methods An institutional series 167 (67 index, 100 nonindex) consecutive carriers gene point mutations in exons 10, 11, 13, 14, or 16 who underwent total thyroidectomy November 1994 2002. Results Regarding codons 618, 620, 634, 768, 790, 804, patient age at diagnosis differed significantly depending type pathology encountered (CCH, MTC without with nodal metastasis). variability age, which may reflect number necessary somatic mutations, explained pathological strata 38% (codon 634) 77% 768) patients. Conversely, 62% 23% different have been determined by genotype. Conclusions pace should taken into account when considering carriers.