Arber Nadir, Moshkowitz Menachem
Integrated Cancer Prevention Center, Tel Aviv Sourasky Medical Center, 6 Weizmann St., Tel Aviv 64239, Israel.
Curr Gastroenterol Rep. 2011 Oct;13(5):435-41. doi: 10.1007/s11894-011-0218-4.
Intestinal polyposis syndromes are relatively rare. However, it is important for clinicians to recognize the potential risks of these syndromes. Based on histology, these syndromes can be classified mainly into hamartomatous polyposis syndromes and familial adenomatous polyposis (FAP), which affects mainly the large intestine. This review discusses the clinical manifestations and underlying genetics of the most common small intestinal polyposis syndromes: Peutz-Jeghers syndrome (PJS), juvenile polyposis (JP), PTEN hamartoma tumor syndrome (PHTS), and the small intestinal implications of familial adenomatous polyposis (FAP).
肠道息肉病综合征相对罕见。然而，临床医生认识到这些综合征的潜在风险很重要。根据组织学，这些综合征主要可分为错构瘤性息肉病综合征和家族性腺瘤性息肉病（FAP），后者主要影响大肠。本综述讨论了最常见的小肠息肉病综合征的临床表现和潜在遗传学：黑斑息肉综合征（PJS）、幼年性息肉病（JP）、PTEN错构瘤肿瘤综合征（PHTS）以及家族性腺瘤性息肉病（FAP）对小肠的影响。
