Kamieniak Marta M, Rico Daniel, Milne Roger L, Muñoz-Repeto Ivan, Ibáñez Kristina, Grillo Miguel A, Domingo Samuel, Borrego Salud, Cazorla Alicia, García-Bueno José M, Hernando Susana, García-Donas Jesús, Hernández-Agudo Elena, Y Cajal Teresa Ramón, Robles-Díaz Luis, Márquez-Rodas Ivan, Cusidó Maite, Sáez Raquel, Lacambra-Calvet Carmen, Osorio Ana, Urioste Miguel, Cigudosa Juan C, Paz-Ares Luis, Palacios José, Benítez Javier, García María J
Human Genetics Group, Spanish National Cancer Research Center (CNIO), C/ Melchor Fernández Almagro 3, 28029, Madrid, Spain.
Structural Computational Biology Group, Spanish National Cancer Research Center (CNIO), C/ Melchor Fernández Almagro 3 28029, Madrid, Spain.
Mol Oncol. 2015 Feb;9(2):422-36. doi: 10.1016/j.molonc.2014.09.010. Epub 2014 Oct 5.
Standard treatments for advanced high-grade serous ovarian carcinomas (HGSOCs) show significant side-effects and provide only short-term survival benefits due to disease recurrence. Thus, identification of novel prognostic and predictive biomarkers is urgently needed. We have used 42 paraffin-embedded HGSOCs, to evaluate the utility of DNA copy number alterations, as potential predictors of clinical outcome. Copy number-based unsupervised clustering stratified HGSOCs into two clusters of different immunohistopathological features and survival outcome (HR = 0.15, 95%CI = 0.03-0.81; Padj = 0.03). We found that loss at 6q24.2-26 was significantly associated with the cluster of longer survival independently from other confounding factors (HR = 0.06, 95%CI = 0.01-0.43, Padj = 0.005). The prognostic value of this deletion was validated in two independent series, one consisting of 36 HGSOCs analyzed by fluorescent in situ hybridization (P = 0.04) and another comprised of 411 HGSOCs from the Cancer Genome Atlas study (TCGA) (HR = 0.67, 95%CI = 0.48-0.93, Padj = 0.019). In addition, we confirmed the association of low expression of the genes from the region with longer survival in 799 HGSOCs (HR = 0.74, 95%CI = 0.61-0.90, log-rank P = 0.002) and 675 high-FIGO stage HGSOCs (HR = 0.76, 95%CI = 0.61-0.96, log-rank P = 0.02) available from the online tool KM-plotter. Finally, by integrating copy number, RNAseq and survival data of 296 HGSOCs from TCGA we propose a few candidate genes that can potentially explain the association. Altogether our findings indicate that the 6q24.2-26 deletion is an independent marker of favorable outcome in HGSOCs with potential clinical value as it can be analyzed by FISH on tumor sections and guide the selection of patients towards more conservative therapeutic strategies in order to reduce side-effects and improve quality of life.
晚期高级别浆液性卵巢癌(HGSOCs)的标准治疗显示出显著的副作用,且由于疾病复发仅能提供短期生存益处。因此,迫切需要鉴定新的预后和预测生物标志物。我们使用了42例石蜡包埋的HGSOCs,以评估DNA拷贝数改变作为临床结局潜在预测指标的效用。基于拷贝数的无监督聚类将HGSOCs分为具有不同免疫组织病理学特征和生存结局的两个聚类(HR = 0.15,95%CI = 0.03 - 0.81;Padj = 0.03)。我们发现6q24.2 - 26区域的缺失与更长生存期的聚类显著相关,且独立于其他混杂因素(HR = 0.06,95%CI = 0.01 - 0.43,Padj = 0.005)。该缺失的预后价值在两个独立队列中得到验证,一个队列由36例通过荧光原位杂交分析的HGSOCs组成(P = 0.04),另一个队列由癌症基因组图谱研究(TCGA)中的411例HGSOCs组成(HR = 0.67,95%CI = 0.48 - 0.93,Padj = 0.019)。此外,我们在799例HGSOCs(HR = 0.74,95%CI = 0.61 - 0.90,对数秩P = 0.002)和675例高国际妇产科联盟(FIGO)分期的HGSOCs(HR = 0.76,95%CI = 0.61 - 0.96,对数秩P = 0.02)中证实了该区域基因低表达与更长生存期的关联,这些数据可从在线工具KM-plotter获取。最后,通过整合TCGA中296例HGSOCs的拷贝数、RNA测序和生存数据,我们提出了一些可能解释这种关联的候选基因。总之,我们的研究结果表明,6q24.2 - 26缺失是HGSOCs中良好结局的独立标志物,具有潜在临床价值,因为它可通过肿瘤切片的荧光原位杂交进行分析,并指导患者选择更保守的治疗策略,以减少副作用并提高生活质量。