Tanyi J, Páy A, Rigó J, Nagy B, Papp Z
Altalános Orvostudományi Kar, Semmelweis Egyetem, Budapest.
Orv Hetil. 2000 May 21;141(21):1115-9.
beta-catenin is a continuously expressed cytoplasmic protein that has an important role is both E-cadherin-mediated cell-cell adhesion and in activation of Wnt/Wingless transcriptional pathway. The accumulation of stabilized beta-catenin caused by the mutation of the exon 3 of beta-catenin gene can stimulate the T-cell factor/Lymphoid enhancing factor-mediated transcriptional activation. The activation of transcriptional pathway may through oncogenes is an important step of the oncogenesis in solid tumors. In this study we analyzed mutations in exon 3 of the beta-catenin gene in 18 sporadic epithelial ovarian tumors. Three mutations were found from these 18 ovarian tumor samples which contained 8 serous, 3 mucinous, 5 endometrioid, one malignant Brenner-type tumor and one transitional cell carcinoma. Two mutations occurred in endometrioid-type (in 47 and 55 codons) and one in serous-type (in 47 codon) ovarian carcinomas, and both mutations were missense and somatic. The patients with mutated beta-catenin gene appeared from the younger patients under the age of 50. Our results suggest that the stabilization of beta-catenin protein by the mutation of CTNNB1 gene can contribute to the multistep process of the oncogenesis of epithelial ovarian tumors. Furthermore these mutations mostly occurs in the endometrioid-type of EOT, but can appear in other types such as serous-type ovarian tumor.
β-连环蛋白是一种持续表达的细胞质蛋白，在E-钙黏蛋白介导的细胞间黏附以及Wnt/无翅转录途径的激活中均发挥重要作用。β-连环蛋白基因外显子3突变导致的稳定型β-连环蛋白积累可刺激T细胞因子/淋巴增强因子介导的转录激活。转录途径通过癌基因激活可能是实体瘤发生过程中的重要一步。在本研究中，我们分析了18例散发性上皮性卵巢肿瘤中β-连环蛋白基因外显子3的突变情况。在这18例卵巢肿瘤样本中发现了3个突变，其中包括8例浆液性、3例黏液性、5例子宫内膜样、1例恶性勃勒纳型肿瘤和1例移行细胞癌。2个突变发生在子宫内膜样型卵巢癌（47和55密码子），1个突变发生在浆液性卵巢癌（47密码子），且这两个突变均为错义突变且为体细胞突变。β-连环蛋白基因突变的患者多为50岁以下的年轻患者。我们的结果表明，CTNNB1基因突变导致的β-连环蛋白蛋白稳定化可能有助于上皮性卵巢肿瘤发生的多步骤过程。此外，这些突变大多发生在子宫内膜样型上皮性卵巢肿瘤中，但也可出现在其他类型如浆液性卵巢肿瘤中。
