Herring J A, Hall C C, Johnson J A, Poole G V, Subramony C, Suvarna-Gurram V, Hall T J
Department of Biochemistry, University of Mississippi Medical Center, Jackson USA.
Am J Gastroenterol. 1996 Mar;91(3):587-91.
Genetic alterations in a tubular adenoma with severe dysplasia arising in a Brooke ileostomy of a familial adenomatous polyposis patient were analyzed. Clinical and morphological characteristics suggest that ileal mucosa progressed to colonic metaplasia and then to dysplastic adenoma. Such changes at ileostomy sites are rare, and little is known about the associated genetic alterations. To determine whether metaplastic epithelium progression to adenoma in the ileum is subject to the same mutations identified in colon carcinogenesis, we evaluated somatic genetic alterations associated with sporadic colorectal cancer development. Sequences examined included mutation cluster regions of the p53 tumor suppressor gene and the k-ras oncogene. Using polymerase chain reaction and DNA sequencing, we identified a point mutation at codon 12 of the K-ras oncogene. To our knowledge, this is the first report of a ras mutation occurring in a tumor originating from ileal mucosa.
对一名家族性腺瘤性息肉病患者布鲁克回肠造口处发生的伴有重度发育异常的管状腺瘤中的基因改变进行了分析。临床和形态学特征表明，回肠黏膜进展为结肠化生，进而发展为发育异常性腺瘤。回肠造口部位的这种变化很罕见，对相关基因改变了解甚少。为了确定回肠化生上皮向腺瘤的进展是否与结肠癌发生中发现的相同突变有关，我们评估了与散发性结直肠癌发生相关的体细胞基因改变。检测的序列包括p53肿瘤抑制基因和k-ras癌基因的突变簇区域。使用聚合酶链反应和DNA测序，我们在K-ras癌基因的第12密码子处鉴定出一个点突变。据我们所知，这是首次报道在源自回肠黏膜的肿瘤中发生ras突变。
