Department of Pathology, University Medical Centre Utrecht, Utrecht, The Netherlands.
Department of Pathology, University Medical Centre Utrecht, Utrecht, The Netherlands.
Pathology. 2018 Jan;50(1):49-59. doi: 10.1016/j.pathol.2017.09.004. Epub 2017 Nov 21.
Colorectal cancer (CRC) accounts for over 8% of all deaths annually worldwide. Between 2 and 5% of all CRCs occur due to inherited syndromes, including Lynch syndrome, familial adenomatous polyposis, MUTYH-associated polyposis, Peutz-Jeghers syndrome, juvenile polyposis and Cowden/PTEN hamartoma syndrome. In addition, serrated polyposis is a clinically defined condition characterised by multiple colorectal serrated polyps and an increased risk of CRC but the genetics are not known. In most hereditary CRC syndromes, polyps undergo carcinogenesis, but the exact route to carcinoma seems to differ between the conditions. Discovery of the key germline mutations in these syndromes has been instrumental to our understanding of the underlying molecular mechanisms of colorectal carcinogenesis. This review summarises the genetic and pathological alterations in hereditary CRC syndromes.
结直肠癌（CRC）占全球每年死亡人数的 8%以上。由于遗传综合征，约 2%至 5%的 CRC 发生，包括林奇综合征、家族性腺瘤性息肉病、MUTYH 相关息肉病、Peutz-Jeghers 综合征、青少年息肉病和 Cowden/PTEN 错构瘤综合征。此外，锯齿状息肉病是一种临床上定义的疾病，其特征是多个结直肠锯齿状息肉和 CRC 风险增加，但遗传情况尚不清楚。在大多数遗传性 CRC 综合征中，息肉会发生癌变，但导致癌的具体途径似乎因情况而异。这些综合征中关键种系突变的发现，对于我们理解结直肠癌变的潜在分子机制至关重要。本文综述了遗传性 CRC 综合征中的遗传和病理改变。
