Half Elizabeth E., Bresalier Robert S.
Department of Gastrointestinal Medicine and Nutrition, The University of Texas MD Anderson Cancer Center, 1515 Holcombe Boulevard-Unit 436, Houston, TX 77030-4009, USA.
Curr Treat Options Gastroenterol. 2004 Jun;7(3):213-224. doi: 10.1007/s11938-004-0042-0.
Colorectal cancer is the second leading cause of cancer-related death in the United States. Although most colorectal cancers are sporadic, about 25% have a familial predisposition and 5% to 7% are hereditary and occur in genetically distinct high-risk families. Advances in treatment options and management of hereditary colorectal cancer syndromes that have occurred over the past years have been principally due to advances in the understanding of the genetics of these syndromes and in additional options for testing. This has led to the possibility of preclinical diagnosis and early surveillance and treatment. In addition, improvements in medical and surgical management have also occurred. This article focuses on four hereditary colon cancer syndromes: familial adenomatous polyposis, hereditary non-polyposis colorectal cancer, juvenile polyposis syndrome, and Peutz-Jeghers syndrome.
结直肠癌是美国癌症相关死亡的第二大主要原因。虽然大多数结直肠癌是散发性的,但约25%有家族易感性,5%至7%是遗传性的,发生在基因上不同的高危家族中。过去几年中,遗传性结直肠癌综合征的治疗选择和管理取得的进展主要归功于对这些综合征遗传学理解的进步以及检测的更多选择。这使得临床前诊断以及早期监测和治疗成为可能。此外,医疗和手术管理也有所改善。本文重点介绍四种遗传性结肠癌综合征:家族性腺瘤性息肉病、遗传性非息肉病性结直肠癌、幼年性息肉病综合征和黑斑息肉综合征。