Chromosomal imbalances in papillary renal cell carcinoma - Genetic differences between histological subtypes
Chromosomal imbalances in papillary renal cell carcinoma - Genetic differences between histological subtypes
复制标题
DOI：
10.1016/s0002-9440(10)65734-3
复制
发表时间：
1998-11-01
影响因子：
6
通讯作者：
Moch, H
中科院分区：
文献类型：
--
作者：
Jiang, F;Richter, J;Moch, H
乳头状肾细胞癌（RCC）是一种肾癌变体，具有明显的肉眼、显微镜和细胞遗传学特征。最近报道了1型（淡色细胞质，小细胞）和2型（嗜酸性细胞质，大细胞）亚型的乳头状细胞癌。在25例乳头状rcc中，通过比较基因组杂交检测了与这些肿瘤类型相关的染色体改变。在染色体7p（56%）、7q（44%）、12q（28%）、16q（32%）、17p（56%）、17q（76%）和20q（32%）上经常检测到相对拷贝数增加。最常丢失的染色体区域包括1p（24%）、4q（36%）、6q（40%）、9p（36%）、13q（36%）、Xp（28%）、Xq（36%）和Y（73%）。乳头状肾细胞癌亚型之间存在临床和遗传差异。2型肿瘤核分级较高（P = 0.0012），分期较高（P = 0.01），预后较1型肿瘤差（P = 0.03）。1型肿瘤中每个肿瘤的DNA增益数，特别是7p和17p的增益数显著高于2型肿瘤（P < 0.01）。这些数据表明乳头状肾细胞癌存在两个不同的形态和遗传亚群。Xp染色体缺失与患者生存期短相关（P < 0.01）。尽管病例数量较少，但这一发现表明Xp染色体上的一个基因可能与乳头状RCC的进展有关。
Papillary renal-cell carcinoma (RCC) is a renal carcinoma variant with distinct gross, microscopic, and cytogenetic features. Recently, a type 1 (pale cytoplasm, small-cell) and a type 2 (eosinophilic cytoplasm, large-cell) subtype of papillary RCC have been described. Chromosomal alterations associated with these tumor types were examined in 25 papillary RCCs by comparative genomic hybridization. Relative copy number gains were frequently detected at chromosomes 7p (56%), 7q (44%), 12q (28%), 16q (32%), 17p (56%), 17q (76%), and 20q (32%). Chromosomal regions that were most often lost included 1p (24%), 4q (36%), 6q (40%), 9p (36%), 13q (36%), Xp (28%), Xq (36%), and Y (73%). There were clinical and genetic differences between the subtypes of papillary RCC. Type 2 tumors were of higher nuclear grade (P = 0.0012) and higher stage (P = 0.01) and had a worse prognosis (P = 0.03) than type 1 tumors. The number of DNA gains per tumor, especially gains of 7p and 17p, was significantly higher in type 1 than in type 2 tumors (P < 0.01). These data suggest the existence of two distinct morphological and genetic subgroups of papillary RCC. Losses of chromosome Xp were associated with short patient survival (P < 0.01). Despite the small number of cases, this finding suggests that a gene on chromosome Xp may contribute to papillary RCC progression.