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在巴西南部诊断为胶质母细胞瘤的成年患者样本中,检测到染色体 7 和 10 非整倍体、EGFR 基因扩增、PTEN 和 TP53 基因缺失以及 1p/19q 缺失的频率及临床意义。

Frequency and clinical significance of chromosome 7 and 10 aneuploidies, amplification of the EGFR gene, deletion of PTEN and TP53 genes, and 1p/19q deficiency in a sample of adult patients diagnosed with glioblastoma from Southern Brazil.

机构信息

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.

出版信息

J Neurooncol. 2017 Dec;135(3):465-472. doi: 10.1007/s11060-017-2606-6. Epub 2017 Aug 30.

DOI:10.1007/s11060-017-2606-6
PMID:28856550
Abstract

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.

摘要

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。

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1
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Cancer Genomics Proteomics. 2016;13(5):317-29.
2
The 2016 World Health Organization Classification of Tumors of the Central Nervous System: a summary.2016 年世界卫生组织中枢神经系统肿瘤分类:概述。
Acta Neuropathol. 2016 Jun;131(6):803-20. doi: 10.1007/s00401-016-1545-1. Epub 2016 May 9.
3
CBTRUS Statistical Report: Primary Brain and Central Nervous System Tumors Diagnosed in the United States in 2008-2012.CBTRUS统计报告:2008 - 2012年美国原发性脑和中枢神经系统肿瘤诊断情况
Int J Mol Sci. 2024 Apr 18;25(8):4438. doi: 10.3390/ijms25084438.
4
MGMT unmethylation and high levels of CD47 and TIGIT indicate a poor prognosis in adult diffuse gliomas.MGMT 未甲基化以及高水平的 CD47 和 TIGIT 表明成人弥漫性神经胶质瘤预后不良。
Front Immunol. 2024 Feb 9;15:1323307. doi: 10.3389/fimmu.2024.1323307. eCollection 2024.
5
Age and sex disparities in Latin-American adults with gliomas: a systematic review and meta-analysis.拉丁美洲成人脑胶质瘤患者的年龄和性别差异:系统评价和荟萃分析。
J Neurooncol. 2023 Sep;164(3):535-543. doi: 10.1007/s11060-023-04448-7. Epub 2023 Sep 29.
6
PDGFRA, KIT, and KDR Gene Amplification in Glioblastoma: Heterogeneity and Clinical Significance.胶质母细胞瘤中 PDGFRA、KIT 和 KDR 基因扩增:异质性和临床意义。
Neuromolecular Med. 2023 Sep;25(3):441-450. doi: 10.1007/s12017-023-08749-y. Epub 2023 Aug 23.
7
Favorable prognostic impact of alterations in wild-type isocitrate dehydrogenase and promoter glioblastoma.野生型异柠檬酸脱氢酶改变和启动子胶质母细胞瘤的有利预后影响
Neurooncol Adv. 2023 Jun 28;5(1):vdad078. doi: 10.1093/noajnl/vdad078. eCollection 2023 Jan-Dec.
8
Identification and validation of a three-gene signature as a candidate prognostic biomarker for lower grade glioma.一种三基因特征作为低级别胶质瘤候选预后生物标志物的鉴定与验证
PeerJ. 2020 Jan 3;8:e8312. doi: 10.7717/peerj.8312. eCollection 2020.
9
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Diagn Pathol. 2019 Apr 9;14(1):29. doi: 10.1186/s13000-019-0802-8.
10
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J Neuropathol Exp Neurol. 2019 Apr 1;78(4):297-304. doi: 10.1093/jnen/nlz006.
Neuro Oncol. 2015 Oct;17 Suppl 4(Suppl 4):iv1-iv62. doi: 10.1093/neuonc/nov189. Epub 2015 Oct 27.
4
Prognostic implications of epilepsy in glioblastomas.胶质母细胞瘤中癫痫的预后意义。
Clin Neurol Neurosurg. 2015 Dec;139:166-71. doi: 10.1016/j.clineuro.2015.10.002. Epub 2015 Oct 22.
5
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Biochem Biophys Res Commun. 2015 Sep 11;465(1):1-4. doi: 10.1016/j.bbrc.2015.07.148. Epub 2015 Aug 4.
6
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9
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Transl Oncol. 2014 Apr;7(2):196-205.e1. doi: 10.1016/j.tranon.2014.02.004. Epub 2014 Mar 4.
10
Gain of function of mutant TP53 in glioblastoma: prognosis and response to temozolomide.胶质母细胞瘤中突变型TP53的功能获得:预后及对替莫唑胺的反应
Ann Surg Oncol. 2014 Apr;21(4):1337-44. doi: 10.1245/s10434-013-3380-0. Epub 2013 Nov 19.