Entius M M, Westerman A M, van Velthuysen M L, Wilson J H, Hamilton S R, Giardiello F M, Offerhaus G J
Department of Pathology, Academic Medical Centre, University of Amsterdam, The Netherlands.
Hepatogastroenterology. 1999 Mar-Apr;46(26):661-6.
Hamartomatous gastrointestinal polyposis syndromes have always been considered as non-neoplastic. Nevertheless, an increased cancer risk both within and outside the gastrointestinal tract may exist in these syndromes. The hamartomatous polyps may sometimes harbor dysplasia, but their neoplastic potential is unknown. The genetic defects causing the hamartomatous syndromes are less well established than, for example, familial adenomatous polyposis (FAP) and hereditary non-polyposis colorectal cancer (HNPCC). The genetic studies on the Mendelian inherited syndromes FAP and HNPCC have made a major contribution to the identification of genes involved in colorectal tumorigenesis. The genes involved in colorectal cancer development may also contribute to cancer development in the hamartomatous polyposis syndromes, and are currently under investigation. Furthermore, new insights into the development of various cancers may be obtained by the isolation and characterization of genes involved in Mendelian inherited hamartomatous polyposis syndromes. This report summarizes the available literature on this subject, and describes the pheno- and genotypic features of the hamartomatous syndromes of juvenile polyposis, Peutz-Jeghers syndrome, and Cowden's disease.
错构瘤性胃肠道息肉综合征一直被认为是非肿瘤性的。然而，这些综合征可能存在胃肠道内外癌症风险增加的情况。错构瘤性息肉有时可能伴有发育异常，但其肿瘤形成潜能尚不清楚。与例如家族性腺瘤性息肉病（FAP）和遗传性非息肉病性结直肠癌（HNPCC）相比，导致错构瘤性综合征的基因缺陷尚未完全明确。对孟德尔遗传综合征FAP和HNPCC的基因研究为鉴定参与结直肠癌发生的基因做出了重大贡献。参与结直肠癌发生的基因也可能在错构瘤性息肉综合征的癌症发生中起作用，目前正在对此进行研究。此外，通过分离和鉴定参与孟德尔遗传错构瘤性息肉综合征的基因，可能会获得对各种癌症发生的新见解。本报告总结了关于该主题的现有文献，并描述了幼年性息肉病、黑斑息肉综合征和考登病等错构瘤性综合征的表型和基因型特征。
