Weitz J, Knaebel H-P, Büchler M W
Abteilung für Allgemein-,Visceral- und Unfallchirurgie, Chirurgische Universitätsklinik, Heidelberg.
Chirurg. 2003 Aug;74(8):717-25. doi: 10.1007/s00104-003-0702-y.
In recent years, there have been major advances regarding the understanding of the pathogenesis of sporadic and hereditary colorectal cancer on the basis of molecular research. The clinical implications of this knowledge differ for the sporadic and hereditary forms. In sporadic colorectal cancer, gene mutations occur in colorectal cells but not as germline mutations. Even though molecular data currently do not influence the clinical management of this form of colorectal cancer, promising molecular approaches exist for the assessment of prognosis, early detection, prevention, and therapy. Germline mutations are the cause of hereditary colorectal cancers, in which molecular methods have a major impact on diagnosis and therapy. Prophylactic surgery is accepted for patients with familial adenomatous polyposis (FAP), but not for patients with hereditary non-polyposis colorectal cancer (HNPCC), the second main form of hereditary colorectal cancer. Further studies will have to clarity this issue.
近年来,基于分子研究,在散发性和遗传性结直肠癌发病机制的理解方面取得了重大进展。这些知识对散发性和遗传性形式的临床意义有所不同。在散发性结直肠癌中,基因突变发生在结肠直肠细胞中,但不是作为种系突变。尽管目前分子数据不影响这种形式的结直肠癌的临床管理,但存在用于评估预后、早期检测、预防和治疗的有前景的分子方法。种系突变是遗传性结直肠癌的病因,其中分子方法对诊断和治疗有重大影响。家族性腺瘤性息肉病(FAP)患者接受预防性手术,但遗传性非息肉病性结直肠癌(HNPCC)患者不接受,HNPCC是遗传性结直肠癌的第二种主要形式。进一步的研究将必须阐明这个问题。