Identification of common allelic loss in chromosome 10q25-q26 in human endometrial cancer

子宫内膜癌是一种常见的女性盆腔恶性肿瘤，其发病率呈快速上升趋势。然而，该病的分子机制尚不清楚。我们通过CGH、FISH和微卫星分析进行了子宫内膜癌基因改变的全基因组筛查。染色体10q存在频繁的等位基因缺失。PTENJ于1997年被克隆并定位于10q23.3。突变分析显示，散发性子宫内膜癌中存在频繁的体细胞突变。然而，我们的杂合性缺失分析表明，在10q中还有另一个常见的等位基因缺失区域。通过使用微卫星分析和FISH的广泛研究，我们将通常缺失的区域缩小到非常小的范围：该区域完全被三个重叠的粘粒克隆覆盖，估计不到120kb。此外，在该区域内还发现了罕见的刀具簇区，这表明CpG岛的存在。

Endometrial cancer is a common female pelvic malignancy whose incidence is increasing rapidly. However, molecular mechanisms of this disease are still to be elucidative. We performed the genome-wide screening of genetic alterations in endometrial cancer by means of CGH, FISH, and microsatellite analysis. Frequent allelic loss in chromosome l0q was found. PTENJ was cloned and mapped on 10q23.3 in 1997. Mutation analysis revealed frequent somatic mutations in sporadic endometrial cancers. However, our LOH analysis indicated that there is another region of common allelic loss in l0q. By extensive studies using microsatellite analysis and FISH, we narrowed down the commonly deleted region very small : the region was completely covered with three overlapping cosmid clones which was estimated to be less than 120-kb. Moreover, rare cutter cluster region was found within this region which suggested an existence of the CpG island.