Antonescu C R, Leung D H, Dudas M, Ladanyi M, Brennan M, Woodruff J M, Cordon-Cardo C
Department of Pathology, Human Genetics, and Surgery, Memorial Sloan-Kettering Cancer Center, New York, New York 10021, USA.
Am J Pathol. 2000 Mar;156(3):977-83. doi: 10.1016/S0002-9440(10)64965-6.
Genetic alterations of cell cycle regulators are thought to represent uncommon and possible secondary events in sarcomas characterized by recurrent chromosomal translocations. The present study investigates this hypothesis on synovial sarcoma (SS), assessing the frequency of expression and possible clinical implications of detecting alterations in critical cell cycle regulatory proteins. A homogeneous cohort of 49 patients with localized SS, restricted to the extremity and with available long-term follow-up information, was selected from our files. We focused our study on molecules involved in the G1 checkpoint and G1-S transition, including cyclins D1 and E, p21(WAF1), p27(Kip1), mdm2, p53, and Ki67. A cutoff point of 10% immunoreactive tumor cell nuclei was selected to define a positive phenotype for any given marker, except for Ki67. High Ki67 proliferative index was considered when >/=20% tumor cells displayed nuclear immunoreactivity. Biphasic SS were analyzed, taking into account separately the expression of these proteins in the spindle and glandular components. Disease specific survival was modeled using the Kaplan-Meier method with log rank test and Cox regression. The cohort of patients analyzed included 23 females and 26 males, and the histological type distribution was 35 monophasic and 14 biphasic SS. The median follow-up for survivors was 53 months, with a 5-year disease-specific survival of 63% and a metastatic disease-free survival of 40%. The positive phenotypes identified for the different markers studied were as follows: cyclin D1, 59%; cyclin E, 29%; p21, 51%; p27, 69%; mdm2, 59%; p53, 16%; and Ki67, 59%. We observed that positive p53, cyclin E, and high Ki67 proliferative index were correlated with survival, but only Ki67 and p53 were independent variables for prognostication. The present study suggests that alterations of cell cycle regulators are more common events in SS than originally thought. p53 overexpression could be of use as a marker together with a high Ki67 proliferative index, in identifying a subset of SS patients with increased risk of tumor relapse.
细胞周期调节因子的基因改变被认为是在以反复出现染色体易位为特征的肉瘤中不常见且可能是继发性事件。本研究在滑膜肉瘤(SS)中探讨这一假说,评估关键细胞周期调节蛋白改变的表达频率及其可能的临床意义。从我们的病例档案中选取了49例局限性SS患者组成的同质队列,这些患者均局限于四肢且有可用的长期随访信息。我们的研究重点是参与G1期检查点和G1-S期转换的分子,包括细胞周期蛋白D1和E、p21(WAF1)、p27(Kip1)、mdm2、p53和Ki67。除Ki67外,选定10%免疫反应性肿瘤细胞核的临界值来定义任何给定标志物的阳性表型。当≥20%肿瘤细胞显示核免疫反应性时,认为Ki67增殖指数高。对双相性SS进行分析时,分别考虑这些蛋白在梭形和腺性成分中的表达。采用Kaplan-Meier法结合对数秩检验和Cox回归对疾病特异性生存进行建模。分析的患者队列包括23名女性和26名男性,组织学类型分布为35例单相性和14例双相性SS。幸存者的中位随访时间为53个月,5年疾病特异性生存率为63%,无转移疾病生存率为40%。所研究的不同标志物确定的阳性表型如下:细胞周期蛋白D1,59%;细胞周期蛋白E,29%;p21,51%;p27,69%;mdm2,59%;p53,16%;Ki67,59%。我们观察到p53阳性、细胞周期蛋白E阳性和高Ki67增殖指数与生存相关,但只有Ki67和p53是预后的独立变量。本研究表明,细胞周期调节因子的改变在SS中比最初认为的更为常见。p53过表达与高Ki67增殖指数一起,可作为识别肿瘤复发风险增加的SS患者亚组的标志物。