Steiner G, Cairns P, Polascik T J, Marshall F F, Epstein J I, Sidransky D, Schoenberg M
James Buchanan Brady Urological Institute, The Johns Hopkins University, School of Medicine, Baltimore, Maryland 21205, USA.
Cancer Res. 1996 Nov 1;56(21):5044-6.
Collecting duct carcinoma (CDC) of the kidney is a rare malignant neoplasm of distal nephron origin. Previous studies of CDC have shown loss of heterozygosity on chromosomal arm 1q in 57% of the cases studied. To better characterize 1q loss in CDC, we performed high-density mapping of the entire long arm of chromosome 1 in 13 CDC tumor samples. We observed complete deletion of chromosomal arm 1q in 5 samples and partial deletion in 4 additional tumors. Our study further showed that the region of minimal deletion is located at 1q32.1-32.2. Sixty-nine percent (9 of 13) of the tumors showed loss of heterozygosity in this area. These data suggest that a gene or group of genes that contribute to the development of distal nephron tumors may be located within the 1q32.1-32.2 region.
肾集合管癌(CDC)是一种起源于远端肾单位的罕见恶性肿瘤。先前对CDC的研究表明,在所研究的病例中,57%的病例存在1号染色体长臂杂合性缺失。为了更好地描述CDC中1号染色体长臂缺失的特征,我们对13个CDC肿瘤样本中的1号染色体整个长臂进行了高密度图谱分析。我们观察到5个样本中1号染色体长臂完全缺失,另外4个肿瘤存在部分缺失。我们的研究进一步表明,最小缺失区域位于1q32.1-32.2。69%(13个中的9个)的肿瘤在该区域显示杂合性缺失。这些数据表明,可能有一个或一组基因参与远端肾单位肿瘤的发生,它们位于1q32.1-32.2区域内。