Adenomatous polyposis coli and translational medicine

摘要: See page 433 Advances in molecular biological techniques recent years have greatly increased our level of understanding about the mechanisms underlying carcinogenesis. Such advances also enabled identification genetic mutations associated with specific cancers. It is accepted that this acceleration discovery linked to tumour type will a great impact on clinical practice. However, translation such scientific knowledge into patient benefit by no means clear cut many instances, and marriage between new discoveries basic science practice— “translational medicine”—is tremendous challenge. The paper Vasen colleagues issue Lancet provides example how translational medicine can influence addresses long-existing surgical dilemma choice restorative proctocolectomy or colectomy ileorectal anastomosis management familial adenomatous polyposis, an autosomal dominant disease due mutation polyposis coli (APC) gene. Proctocolectomy more acceptable option from oncological standpoint but it carries higher morbidity than do anastomosis. By contrast, risk developing rectal cancer 10–55% over 20 years. 1,2 To resolve dilemma, authors investigate possibility site APC gene may assist procedure. Their study shows further surgery, needed for recurrent polyps cancer, was greater patients region after codon 1250 those before codon. take-home message studies should be preferred protocolectomy Although we await confirmation results study, other shown definite correlation phenotype disease. Mutations codons 1250–1464 exon 15, example, been reported extensive (over 5000) early age onset, whereas outside fewer older onset symptoms. 3