Jacoby R F, Schlack S, Sekhon G, Laxova R
Department of Medicine, Section of Gastroenterology, University of Wisconsin, Madison 53792, USA.
Am J Med Genet. 1997 Jun 27;70(4):361-4. doi: 10.1002/(sici)1096-8628(19970627)70:4<361::aid-ajmg6>3.0.co;2-w.
Juvenile polyps are the most frequent gastrointestinal polyps with a malignant potential for which the genetic basis is unknown. Juvenile polyps, with a normal epithelium but hypertrophic lamina propria, are histologically quite distinct from adenomatous polyps which have dysplastic changes in epithelial nuclei. Furthermore, the adenomatous polyposis coli (APC) gene on Chr 5, mutated somatically in adenomatous polyps and mutated in the germline of patients with familial adenomatous polyposis, is not linked to hereditary juvenile polyposis. We provide the first report indicating that a tumor suppressor gene associated with juvenile polyposis may be located at 10q22.3q24.1. Cytogenetic studies of a patient with juvenile polyposis and multiple congenital abnormalities of the head, extremities, and abdomen revealed a de novo interstitial deletion of Chr 10 as the only defect, del(10)(10q22.3q24.1).
幼年性息肉是最常见的具有恶性潜能的胃肠道息肉，但其遗传基础尚不清楚。幼年性息肉具有正常的上皮，但固有层肥厚，在组织学上与上皮细胞核有发育异常改变的腺瘤性息肉截然不同。此外，位于5号染色体上的腺瘤性息肉病（APC）基因，在腺瘤性息肉中发生体细胞突变，在家族性腺瘤性息肉病患者的生殖系中发生突变，但与遗传性幼年性息肉病无关。我们首次报道表明，与幼年性息肉病相关的一个肿瘤抑制基因可能位于10q22.3q24.1。对一名患有幼年性息肉病且头部、四肢和腹部有多处先天性异常的患者进行的细胞遗传学研究显示，10号染色体发生了新发的间质性缺失，即del(10)(10q22.3q24.1)，这是唯一的缺陷。
