PubMed · 9068584
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M Angrist. 1997. Does phaster mean better?. https://pubmed.ncbi.nlm.nih.gov/9068584/
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The aetiology of sporadic medullary thyroid carcinoma is unknown. About 50% harbour a somatic mutation at codon 918 of RET (M918T). To investigate whether other RET sequence variants may be associated with or predispose to the development of sporadic medullary thyroid carcinoma, we analysed genomic DNA from the germline and corresponding tumour from 50 patients to identify RET sequence variants. In one patient, tumour DNA showed a novel somatic 12 bp in-frame deletion in exon 15. More interestingly, we found that the rare polymorphism at codon 836 (c.2439C > T; S836S) occurred at a significantly higher frequency than that in control individuals without sporadic medullary thyroid carcinoma (Fisher's exact test, P = 0.03). Further, among the nine evaluable cases with germline c.2439C/T, eight also had the somatic M918T mutation in MTC DNA which was more frequent than in patients with the more common c.2439C/C (89% vs 40%, respectively; Fisher's exact test, P = 0.01). These findings suggest that the rare sequence variant at codon 836 may somehow play a role in the genesis of sporadic medullary thyroid carcinoma.
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Medullary thyroid carcinoma (MTC) may occur sporadically or as part of the autosomal dominant multiple endocrine neoplasia type 2 (MEN 2). Three hereditary forms of MEN 2 have been identified: MEN 2A, MEN 2B, and familial MTC (FMTC). Missense germ-line mutations in the RET proto-oncogene have been identified as cause of these endocrine diseases. Mutations 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. Therefore, the more mutations are found, the better it is possible to establish phenotype-genotype correlations. We report on a novel RET mutation at codon 611 in a family with MTC without other clinical manifestations and of rather benign course.