Graduate Program in Pathology, Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA), Porto Alegre, RS, Brazil.
Clinical Genetics, UFCSPA and Complexo Hospitalar Santa Casa de Porto Alegre (CHSCPA), Porto Alegre, RS, Brazil.
J Neurooncol. 2017 Dec;135(3):465-472. doi: 10.1007/s11060-017-2606-6. Epub 2017 Aug 30.
Glioblastoma stands out as the most frequent central nervous system neoplasia, presenting a poor prognosis. The aim of this study was to verify the frequency and clinical significance of the aneuploidy of chromosomes 7 and 10, EGFR amplification, PTEN and TP53 deletions and 1p/19q deficiency in adult patients diagnosed with glioblastoma. The sample consisted of 40 patients treated from November 2011 to March 2015 at two major neurosurgery services from Southern Brazil. Molecular cytogenetic analyses of the tumor were performed through fluorescent in situ hybridization (FISH). The clinical features evaluated consisted of age, sex, tumor location, clinical symptoms, family history of cancer, type of resection and survival. The mean age of the patients was 59.3 years (ranged from 41 to 83). Most of them were males (70%). The median survival was 145 days. Chromosome 10 monosomy was detected in 52.5% of the patients, chromosome 7 polysomy in 50%, EGFR amplification in 42.5%, PTEN deletion in 35%, TP53 deletion in 22.5%, 1p deletion in 5% and 19q deletion in 7.5%. Age was shown to be a prognostic factor, and patients with lower age presented higher survival (p = 0.042). TP53 and PTEN deletions had a negative impact on survival (p = 0.011 and p = 0.037, respectively). Our data suggest that TP53 and PTEN deletions may be associated with a poorer prognosis. These findings may have importance over prognosis determination and choice of the therapy to be administered.
胶质母细胞瘤是最常见的中枢神经系统肿瘤,预后较差。本研究旨在验证染色体 7 和 10 的非整倍性、EGFR 扩增、PTEN 和 TP53 缺失以及 1p/19q 缺失在诊断为胶质母细胞瘤的成年患者中的频率和临床意义。该样本由来自巴西南部的两家主要神经外科服务机构于 2011 年 11 月至 2015 年 3 月治疗的 40 名患者组成。通过荧光原位杂交(FISH)对肿瘤进行分子细胞遗传学分析。评估的临床特征包括年龄、性别、肿瘤位置、临床症状、癌症家族史、切除类型和生存。患者的平均年龄为 59.3 岁(范围为 41 至 83 岁)。大多数为男性(70%)。中位生存期为 145 天。52.5%的患者检测到 10 号染色体单体缺失,50%的患者检测到 7 号染色体三体,42.5%的患者检测到 EGFR 扩增,35%的患者检测到 PTEN 缺失,22.5%的患者检测到 TP53 缺失,5%的患者检测到 1p 缺失,7.5%的患者检测到 19q 缺失。年龄是一个预后因素,年龄较低的患者生存时间更长(p=0.042)。TP53 和 PTEN 缺失对生存有负面影响(p=0.011 和 p=0.037)。我们的数据表明,TP53 和 PTEN 缺失可能与预后较差有关。这些发现可能对预后判断和治疗选择具有重要意义。