Watne A L
Harris Cancer Center, Atlanta, GA 30312, USA.
J Surg Oncol. 1997 Nov;66(3):207-14. doi: 10.1002/(sici)1096-9098(199711)66:3<207::aid-jso10>3.0.co;2-z.
Colon polyps may be single or multiple, noninherited or inherited, histologically may vary from inflammatory, hamartomatous, neurogenic, or adenomatous, and may be benign or malignant. The various recognized syndromes are discussed including their clinical presentation, malignant potential, and associated tumors. Recognition of these clinical syndromes will allow the clinician to categorize the patient and the relative risk. The discussion goes into the genetic studies identifying the adenomatous polyposis coli gene on chromosome 5 q21 and the identification of mutations arising in the DNA repair genes (MSA2, MLH1, PMSI, and M52) in the HNPCC syndrome. This identified two divergent pathologies, both involving "multiple hits" with mucosal cells going from normal to adenoma-dysplasia-carcinoma. The understanding of the multiple hit concept with the adenoma-dysplasia-carcinoma progression will aid in the further understanding of the broad neoplastic process.
结肠息肉可以是单发或多发的,非遗传性或遗传性的,组织学上可表现为炎症性、错构瘤性、神经源性或腺瘤性,并且可能是良性或恶性的。文中讨论了各种已被认可的综合征,包括它们的临床表现、恶变潜能及相关肿瘤。认识这些临床综合征将有助于临床医生对患者进行分类并评估相对风险。讨论内容还涉及鉴定5号染色体q21上的腺瘤性息肉病基因的遗传学研究,以及在遗传性非息肉病性结直肠癌综合征中鉴定DNA修复基因(MSA2、MLH1、PMSI和M52)中出现的突变。这确定了两种不同的病理情况,两者都涉及黏膜细胞从正常到腺瘤-发育异常-癌的“多次打击”。理解腺瘤-发育异常-癌进展的多次打击概念将有助于进一步理解广泛的肿瘤形成过程。