Palmedo G, Fischer J, Kovacs G
Department of Urology, Ruprecht-Karls-University of Heidelberg, Germany.
Lab Invest. 1997 Dec;77(6):633-8.
Trisomies of chromosomes 3q, 7, 8, 12, 16, 17q, and 20 and the loss of the Y chromosome are specific genetic changes in papillary renal cell tumors. Many papillary renal cell tumors show marker chromosomes by karyotyping, which may contain duplicated chromosomal sequences. To uncover such alterations, we have analyzed 35 papillary renal cell tumors for each chromosome arm mentioned above and also for the X and Y chromosomes by employing a fluorescent microsatellite assay. We detected allelic duplications at the following chromosomal regions: 7q31-33 (64%), 17q12-22 (70%), 16q24-qter (55%), 12q12-14 (42%), 8p21 (25%), 3q22-24 (24%), and 20q13 (48%). The Y chromosome was missing in 74% of tumors obtained from male patients. No deletion at chromosome 3p was detected. The microsatellite assay revealed several allelic duplications at the specific chromosomal regions in papillary renal cell tumors, which either showed rearranged chromosomes of unknown origin or did not show specific alterations by previous karyotyping.
3号染色体长臂、7号、8号、12号、16号、17号染色体长臂和20号染色体三体以及Y染色体缺失是乳头状肾细胞肿瘤中的特定基因改变。许多乳头状肾细胞肿瘤通过核型分析显示出标记染色体，其可能包含重复的染色体序列。为了揭示此类改变，我们通过荧光微卫星分析对35例乳头状肾细胞肿瘤的上述每个染色体臂以及X和Y染色体进行了分析。我们在以下染色体区域检测到等位基因重复：7q31 - 33（64%）、17q12 - 22（70%）、16q24 - qter（55%）、12q12 - 14（42%）、8p21（25%）、3q22 - 24（24%）和20q13（48%）。在男性患者的肿瘤中，74%检测到Y染色体缺失。未检测到3号染色体短臂的缺失。微卫星分析揭示了乳头状肾细胞肿瘤特定染色体区域的几个等位基因重复，这些区域要么显示出来源不明的重排染色体，要么在先前的核型分析中未显示出特定改变。
