Barel D, Cohen I J, Mor C, Stern S, Shapiro R, Shomrat R, Galanti Y, Legum C, Zaizov R, Avigad S
Cancer Molecular Genetics, Felsenstein Medical Research Center, Petah Tiqva, Israel.
Cancer Lett. 1998 Oct 23;132(1-2):119-25. doi: 10.1016/s0304-3835(98)00167-0.
Turcot's syndrome is a rare heritable complex that is characterized by an association between a primary neuroepithelial tumor of the central nervous system and multiple colonic polyps. The aim of this study was to analyze genetic alterations in a case of Turcot's syndrome in a 10.5-year-old boy in whom a colorectal tumor developed 3.5 years following astrocytoma. An APC germline non-sense mutation at codon 1284 leading to a truncated protein was identified, as was a somatic p53 mutation in the colorectal carcinoma in exon 7, codon 244. The latter was not identified in the primary astrocytoma. However, immunohistochemistry revealed high p53 protein expression in both tumors, suggesting an additional p53 mutation in the primary astrocytic tumor. The diverse p53 mutations observed in this unique syndrome in two different sites and stages of the disease may shed light on the multistep progression of the malignant events.
图尔科特综合征是一种罕见的遗传性综合征，其特征是中枢神经系统原发性神经上皮肿瘤与多个结肠息肉相关联。本研究的目的是分析一名10.5岁男孩的图尔科特综合征病例中的基因改变，该男孩在星形细胞瘤发生3.5年后出现了结直肠癌。鉴定出一个导致截短蛋白的第1284密码子APC种系无义突变，以及结肠直肠癌外显子7第244密码子处的体细胞p53突变。在原发性星形细胞瘤中未发现后者。然而，免疫组化显示两个肿瘤中p53蛋白均高表达，提示原发性星形细胞瘤中存在额外的p53突变。在该独特综合征的疾病的两个不同部位和阶段观察到的不同p53突变可能有助于揭示恶性事件的多步骤进展。
