Department of Laboratory Medicine, Medical School, University of Pécs, Szigeti str. 12. H-7624 Hungary.
Anticancer Res. 2012 Feb;32(2):523-7.
Mutation of the p53 gene has been implicated in the development of carcinoma in situ (CIS) to invasive solid urothelial carcinomas (UC) whereas loss of heterozygosity (LOH) at chromosome 9 has been suggested to plag part in the development of papillary UCs.
The p53 mutation and LOH at chromosomes 17p13.1 and 9 were analysed in 120 UCs. Tumor and matched normal DNA were used for microsatellite allelotyping of chromosome 17p and the entire chromosome 9.
LOH at 17p13.1 was found in each grade and stage of the UCs, but mutation of the p53 occurred only in the highly malignant G3 tumors including papillary pT1G3 UCs. LOH were found at one or more of the seven tumor suppressor gene loci along chromosome 9 in all but two of the UCs with p53 mutation.
Mutation of the p53 gene is not a pathway correlated genetic change, but is associated with the increased cell proliferation of G3 UCs.
p53 基因突变与原位癌（CIS）发展为浸润性实体尿路上皮癌（UC）有关，而 9 号染色体杂合性丢失（LOH）被认为参与了乳头状 UC 的发展。
在 120 例 UC 中分析了 p53 基因突变和染色体 17p13.1 和 9 号染色体的 LOH。肿瘤和匹配的正常 DNA 用于微卫星 17p 等位基因分型和整个 9 号染色体。
LOH 在 UC 的各个分级和分期中均存在，但 p53 突变仅发生在包括乳头状 pT1G3 UC 在内的高度恶性 G3 肿瘤中。在除两个无 p53 突变的 UC 外，所有伴有 p53 突变的 UC 中均发现一个或多个 9 号染色体上的七个肿瘤抑制基因位点的 LOH。
p53 基因突变不是相关的遗传改变途径，而是与 G3 UC 的细胞增殖增加有关。
