Tamura K, Utsunomiya J
Department of Genetics, Hyogo College of Medicine.
Nihon Rinsho. 1995 Nov;53(11):2728-33.
The hamartomatous polyposis syndromes, which comprise Peutz-Jeghers syndrome, juvenile polyposis, and Cowden's disease, occur less frequently. These disorders are characterized by multiple hamartomatous polyps in the gastrointestinal tract, and distinctive extraintestinal manifestations. We have recognized that these have inheritance with autosomal dominant trait by genetic studies. Most of them have high malignant potential which make transformation to neoplasms in gastrointestinal tract and extraintestinal organs. It is necessary for patients with these disorders to manage appropriately. Therefore, we must understand their natural histories and pathological characterization. Because affected patients and their first degree relatives belong to high risk groups of malignant neoplasms, we have to intensively survey them through their lifetime.
错构瘤性息肉综合征包括黑斑息肉综合征、幼年性息肉病和考登病，其发病率较低。这些疾病的特征是胃肠道出现多个错构瘤性息肉以及独特的肠外表现。通过遗传学研究我们已经认识到，这些疾病具有常染色体显性遗传特征。它们中的大多数具有很高的恶变潜能，可导致胃肠道和肠外器官发生肿瘤转化。对患有这些疾病的患者进行适当管理很有必要。因此，我们必须了解它们的自然病史和病理特征。由于受影响的患者及其一级亲属属于恶性肿瘤的高危人群，我们必须对他们进行终身密切监测。
