目的:分析晚期黑色素瘤组织中磷酸化成视网膜细胞瘤蛋白(phosphorylated retinoblastoma,p-Rb)的表达情况,并探讨其与临床病理特征及预后之间的相关性。方法:收集2011至2014年在北京大学肿瘤医院肾癌黑色素瘤科住院治疗并符合纳入和排...目的:分析晚期黑色素瘤组织中磷酸化成视网膜细胞瘤蛋白(phosphorylated retinoblastoma,p-Rb)的表达情况,并探讨其与临床病理特征及预后之间的相关性。方法:收集2011至2014年在北京大学肿瘤医院肾癌黑色素瘤科住院治疗并符合纳入和排除标准的66例晚期黑色素瘤患者的临床资料及其石蜡包埋组织切片,采用免疫组化方法检测患者原发灶肿瘤组织中p-Rb的表达情况,结合患者临床病理特征、总生存期等临床数据进行相关性分析。结果:晚期黑色素瘤组织中p-Rb的阳性表达率为57.6%(38/66)。非肢端的皮肤型、肢端型及黏膜型的p-Rb阳性率分别为73.7%(14/19)、63.0%(17/27)和35.0%(7/20),差异有统计学意义(P=0.039)。p-Rb在不同基因突变亚组中的阳性率亦不同,BRAF突变组为83.3%(5/6),C-KIT突变组为100.0%(2/2),N-RAS突变组为100.0%(9/9),PDGFRA突变组为50.0%(1/2),2个基因突变组为50.0%(1/2),基因野生型为44.4%(20/45),差异有统计学意义(P=0.004)。p-Rb表达水平与年龄、性别、分期、溃疡、血清LDH水平无相关性(P>0.05)。p-Rb阳性患者的中位总生存期(OS)较阴性患者略短(30.0 vs 39.2个月),但差异无统计学意义(P=0.555)。结论:超过半数的晚期黑色素瘤组织中有p-Rb的阳性表达,非肢端的皮肤型中p-Rb阳性率高于肢端型、黏膜型,且携带c-KIT和N-RAS突变的患者黑色素瘤组织中p-Rb阳性率较高。展开更多
The retinoblastoma (Rb) gene probe p123 M 1.8 andP68 Rs2.0 were used to study the frequencies of the.BamHI and Rsal restriction fragment length polymorphisms (RFLPs) in the Rb gene among the population of Han national...The retinoblastoma (Rb) gene probe p123 M 1.8 andP68 Rs2.0 were used to study the frequencies of the.BamHI and Rsal restriction fragment length polymorphisms (RFLPs) in the Rb gene among the population of Han nationality in Guangdong Province.The result showed that the heterozygotic rate of the Rsal locus was only 55.0%. Linkage study of the BamHI and the Rsal RFLPs demonstrated that 10.s% of the Rsal polymorphic loci were heterozygous for the BamHI RFLP.Thus the combined use of the two RFLPs can give information for about 65.5% of the population.展开更多
Determination of 8 cytogenetic indicators in 14 cases of Rb,their 21 parents and 14 normal controls revealed various degrees ofchromosome instability and nondisjunction in the patients and their parents,indicating the...Determination of 8 cytogenetic indicators in 14 cases of Rb,their 21 parents and 14 normal controls revealed various degrees ofchromosome instability and nondisjunction in the patients and their parents,indicating the presence of genetic neoplastic predisposition to neoplasm inRb patients.Eye Science 1993;9:149-152.展开更多
文摘目的:分析晚期黑色素瘤组织中磷酸化成视网膜细胞瘤蛋白(phosphorylated retinoblastoma,p-Rb)的表达情况,并探讨其与临床病理特征及预后之间的相关性。方法:收集2011至2014年在北京大学肿瘤医院肾癌黑色素瘤科住院治疗并符合纳入和排除标准的66例晚期黑色素瘤患者的临床资料及其石蜡包埋组织切片,采用免疫组化方法检测患者原发灶肿瘤组织中p-Rb的表达情况,结合患者临床病理特征、总生存期等临床数据进行相关性分析。结果:晚期黑色素瘤组织中p-Rb的阳性表达率为57.6%(38/66)。非肢端的皮肤型、肢端型及黏膜型的p-Rb阳性率分别为73.7%(14/19)、63.0%(17/27)和35.0%(7/20),差异有统计学意义(P=0.039)。p-Rb在不同基因突变亚组中的阳性率亦不同,BRAF突变组为83.3%(5/6),C-KIT突变组为100.0%(2/2),N-RAS突变组为100.0%(9/9),PDGFRA突变组为50.0%(1/2),2个基因突变组为50.0%(1/2),基因野生型为44.4%(20/45),差异有统计学意义(P=0.004)。p-Rb表达水平与年龄、性别、分期、溃疡、血清LDH水平无相关性(P>0.05)。p-Rb阳性患者的中位总生存期(OS)较阴性患者略短(30.0 vs 39.2个月),但差异无统计学意义(P=0.555)。结论:超过半数的晚期黑色素瘤组织中有p-Rb的阳性表达,非肢端的皮肤型中p-Rb阳性率高于肢端型、黏膜型,且携带c-KIT和N-RAS突变的患者黑色素瘤组织中p-Rb阳性率较高。
文摘The retinoblastoma (Rb) gene probe p123 M 1.8 andP68 Rs2.0 were used to study the frequencies of the.BamHI and Rsal restriction fragment length polymorphisms (RFLPs) in the Rb gene among the population of Han nationality in Guangdong Province.The result showed that the heterozygotic rate of the Rsal locus was only 55.0%. Linkage study of the BamHI and the Rsal RFLPs demonstrated that 10.s% of the Rsal polymorphic loci were heterozygous for the BamHI RFLP.Thus the combined use of the two RFLPs can give information for about 65.5% of the population.
文摘Determination of 8 cytogenetic indicators in 14 cases of Rb,their 21 parents and 14 normal controls revealed various degrees ofchromosome instability and nondisjunction in the patients and their parents,indicating the presence of genetic neoplastic predisposition to neoplasm inRb patients.Eye Science 1993;9:149-152.
