Wu S Q, Hafez G R, Xing W, Newton M, Chen X R, Messing E
Cytogenetic Research Laboratory, Comprehensive Cancer Center, University of Wisconsin, Madison, USA.
Cancer. 1996 Mar 15;77(6):1154-60. doi: 10.1002/(sici)1097-0142(19960315)77:6<1154::aid-cncr23>3.0.co;2-#.
Conventional pathologic classifications of human renal cell carcinoma (RCC) give little insight into oncogenesis and little assistance in predicting the clinical behavior of this disease. Identification of specific genetic alterations involved in the development of RCC using fluorescence in situ hybridization (FISH) however, may help provide foundations for classification, prognosis, and clinical management of the patients.
Archival, paraffin embedded tissue sections from 30 human non-papillary RCCs were examined with a dual color FISH technique for loss of chromosomes 3p and 14q. Telomeric DNA probes from 3p or 14q and an internal ploidy control probe, centromeric probe of chromosome 2, were applied directly to the tumor sections. The correlations between loss of 3p or 14q, and tumor ploidy, with tumor grade, pathologic stage, and patient outcome were assessed.
Ninety percent of the patients (27) lost chromosome 3p, and 36.7% of the patients (11) had chromosome 14q deletions. The loss of 3p in the samples tested was unrelated to patient age, gender, outcome, tumor stage, or histologic grade. However, the deletion of 14q was significantly correlated with higher stage (P = 0.01), histologic grade (P = 0.01), and patient outcome (P < 10(-4)).
The close correlation of 14q loss with higher stage, higher histologic grade, and poorer outcome for patients with nonpapillary RCC indicates that it may be a promising prognostic marker.
人类肾细胞癌（RCC）的传统病理分类对肿瘤发生机制的了解有限，对预测该疾病的临床行为帮助不大。然而，使用荧光原位杂交（FISH）技术鉴定RCC发生过程中涉及的特定基因改变，可能有助于为患者的分类、预后评估及临床管理提供依据。
采用双色FISH技术检测30例人类非乳头状RCC存档石蜡包埋组织切片中3号染色体短臂（3p）和14号染色体长臂（14q）的缺失情况。将来自3p或14q的端粒DNA探针以及一个内部倍体对照探针（2号染色体着丝粒探针）直接应用于肿瘤切片。评估3p或14q缺失与肿瘤倍体、肿瘤分级、病理分期及患者预后之间的相关性。
90%的患者（27例）存在3p染色体缺失，36.7%的患者（11例）有14q染色体缺失。所检测样本中3p缺失与患者年龄、性别、预后、肿瘤分期或组织学分级无关。然而，14q缺失与更高分期（P = 0.01）、组织学分级（P = 0.01）及患者预后（P < 10⁻⁴）显著相关。
14q缺失与非乳头状RCC患者的更高分期、更高组织学分级及更差预后密切相关，表明它可能是一个有前景的预后标志物。
