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摩洛哥患者原发性胶质母细胞瘤的临床病理特征和分子分析。

Clinicopathological features and molecular analysis of primary glioblastomas in Moroccan patients.

机构信息

Service de Neurochirurgie, Centre Hospitalier Universitaire Ibn Rochd, Casablanca, Morocco.

出版信息

J Mol Neurosci. 2013 Mar;49(3):567-73. doi: 10.1007/s12031-012-9868-4. Epub 2012 Aug 4.

Abstract

Glioblastoma is the most frequent and most aggressive primary brain tumor. Primary and secondary glioblastomas develop through different genetic pathways. The aim of this study was to determinate the genetic and clinical features of primary glioblastoma in Moroccan patients. The blood and tumor samples were obtained from a group of 34 Moroccan patients affected with primary glioblastoma. The tumors were investigated for TP53, IDH1, and IDH2 mutations using PCR sequencing analysis. Clinicopathological data showed that the mean age at diagnosis of patients was 50.06 years, the sex ratio was 11 F/23 M, and the median of Karnofsky performance score was 60. About 18 % of patients were initially treated by total tumor resection, 41 % by subtotal, and 38 % by partial resection, but biopsy was performed for a single patient (3 %). Twenty-five patients (74 %) received radiotherapy. In addition, the median survival of the all patients was 13 months following diagnosis. There was a significant impact of higher Karnofsky performance score (KPS) (≥80) on overall survival, p-log-rank test = 0.0002, whereas other parameters did not show any significant differences. The molecular analysis revealed TP53 mutations in 3/34 (8.82 %) cases; R273H, R306X, and Q136X. However, none of the analyzed samples contained the R132-IDH1 or R172-IDH2 mutations. These results showed the absence of IDH1 mutation in primary glioblastoma, confirming that this mutation is a hallmark of secondary glioblastoma. It can be used to distinguish primary from secondary glioblastomas. We found also that higher KPS was a significantly favorable factor in patients with primary glioblastoma.

摘要

胶质母细胞瘤是最常见和最具侵袭性的原发性脑肿瘤。原发性和继发性胶质母细胞瘤通过不同的遗传途径发展。本研究旨在确定摩洛哥患者原发性胶质母细胞瘤的遗传和临床特征。从一组 34 名患有原发性胶质母细胞瘤的摩洛哥患者中获得了血液和肿瘤样本。使用 PCR 测序分析检测 TP53、IDH1 和 IDH2 突变。临床病理数据显示,患者的平均诊断年龄为 50.06 岁,男女比例为 11 比 23,卡诺夫斯基表现评分中位数为 60。约 18%的患者最初接受了全肿瘤切除术,41%接受了次全切除术,38%接受了部分切除术,但只有 1 名患者接受了活检(3%)。25 名患者(74%)接受了放疗。此外,所有患者的中位生存时间为诊断后 13 个月。较高的卡诺夫斯基表现评分(KPS)(≥80)对总生存有显著影响,p-log-rank 检验=0.0002,而其他参数没有显示任何显著差异。分子分析显示 34 例中有 3 例(8.82%)存在 TP53 突变;R273H、R306X 和 Q136X。然而,没有分析样本包含 R132-IDH1 或 R172-IDH2 突变。这些结果表明原发性胶质母细胞瘤中不存在 IDH1 突变,证实该突变是继发性胶质母细胞瘤的标志。它可以用于区分原发性和继发性胶质母细胞瘤。我们还发现,较高的 KPS 是原发性胶质母细胞瘤患者的一个显著有利因素。

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