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本文引用的文献

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EGFR expression stratifies oligodendroglioma behavior.EGFR 表达分层少突胶质瘤行为。
Am J Pathol. 2011 Oct;179(4):1638-44. doi: 10.1016/j.ajpath.2011.06.020. Epub 2011 Aug 11.
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FISH-based detection of 1p 19q codeletion in oligodendroglial tumors: procedures and protocols for neuropathological practice - a publication under the auspices of the Research Committee of the European Confederation of Neuropathological Societies (Euro-CNS).基于荧光原位杂交技术检测少突胶质细胞瘤中1p 19q共缺失:神经病理学实践的操作步骤与方案——欧洲神经病理学会联合会(Euro-CNS)研究委员会主持下的一项出版物
Clin Neuropathol. 2011 Mar-Apr;30(2):47-55. doi: 10.5414/npp30047.
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Detection of allelic status of 1p and 19q by microsatellite-based PCR versus FISH: limitations and advantages in application to patient management.基于微卫星的聚合酶链反应(PCR)与荧光原位杂交(FISH)检测1p和19q等位基因状态:在患者管理应用中的局限性与优势
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Loss of chromosome 1p/19q in oligodendroglial tumors: refinement of chromosomal critical regions and evaluation of internexin immunostaining as a surrogate marker.少突胶质细胞瘤中 1p/19q 染色体缺失:染色体关键区域的细化及连接蛋白免疫染色作为替代标记物的评估。
J Neuropathol Exp Neurol. 2011 Mar;70(3):177-82. doi: 10.1097/NEN.0b013e31820c765b.
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Establishment of prognostic models for astrocytic and oligodendroglial brain tumors with standardized quantification of marker gene expression and clinical variables.通过对标记基因表达和临床变量进行标准化定量,建立星形细胞和少突胶质细胞脑肿瘤的预后模型。
Biomark Insights. 2010 Dec 22;5:153-68. doi: 10.4137/BMI.S6167.
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Gone FISHing: clinical lessons learned in brain tumor molecular diagnostics over the last decade. Gone FISHing:过去十年中脑肿瘤分子诊断学的临床经验教训。
Brain Pathol. 2011 Jan;21(1):57-73. doi: 10.1111/j.1750-3639.2010.00453.x.
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Practical molecular diagnostics in neuropathology: making a tough job a little easier.神经病理学中的实用分子诊断:让棘手的工作变得更轻松。
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Reproducibility and performance of virtual karyotyping with SNP microarrays for the detection of chromosomal imbalances in formalin-fixed paraffin-embedded tissues.使用单核苷酸多态性微阵列进行虚拟核型分析在福尔马林固定石蜡包埋组织中检测染色体失衡的可重复性和性能
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All the 1p19q codeleted gliomas are mutated on IDH1 or IDH2.所有 1p19q 共缺失型神经胶质瘤均存在 IDH1 或 IDH2 突变。
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IDH1 and IDH2 mutations are prognostic but not predictive for outcome in anaplastic oligodendroglial tumors: a report of the European Organization for Research and Treatment of Cancer Brain Tumor Group.异柠檬酸脱氢酶 1 和 2 突变对间变性少突胶质细胞瘤的预后有影响,但对其治疗结局无预测作用:欧洲癌症研究与治疗组织脑肿瘤组的报告。
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10q 状态在基于结果的 1p/19q 荧光原位杂交和聚合酶链反应微卫星杂合性丢失分析的少突胶质细胞瘤之间的比较中的重要性。

The importance of 10q status in an outcomes-based comparison between 1p/19q fluorescence in situ hybridization and polymerase chain reaction-based microsatellite loss of heterozygosity analysis of oligodendrogliomas.

机构信息

Department of Pathology, University of Kentucky, Lexington, Kentucky, USA.

出版信息

J Neuropathol Exp Neurol. 2012 Jan;71(1):73-82. doi: 10.1097/NEN.0b013e318240fa65.

DOI:10.1097/NEN.0b013e318240fa65
PMID:22157622
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3246063/
Abstract

1p/19q codeletion is a favorable prognostic marker of oligodendrogliomas. Although fluorescence in situ hybridization (FISH) and microsatellite-based polymerase chain reaction (PCR) for loss of heterozygosity (LOH) are common methods to test for 1p/19q codeletion, it is unclear which test is better at prognostic stratification. This study analyzed outcomes of 111 oligodendrogliomas with both 1p/19q FISH and LOH done at the time of diagnosis. Overall concordance between the 2 assays was 81.1%. In grade III oligodendrogliomas, LOH was better than FISH at survival stratification (p < 0.0001 for LOH vs p = 0.02 for FISH), although increasing the stringency of FISH interpretation criteria improved concordance and prognostic power. Oligodendrogliomas that were 1p/19q-codeleted by FISH but also had 10q LOH were negative for 1p/19q codeletion by PCR analysis in more than 70% of cases, with very poor survival in the grade III subset. Thus, although PCR-based LOH is a better stratifier of 1p/19q status, FISH still has clinical and prognostic utility, especially if 10q data can be incorporated.

摘要

1p/19q 缺失是少突胶质细胞瘤的有利预后标志物。荧光原位杂交(FISH)和基于微卫星的聚合酶链反应(PCR)检测杂合性丢失(LOH)是检测 1p/19q 缺失的常用方法,但哪种方法更适合预后分层尚不清楚。本研究分析了 111 例同时进行 1p/19q FISH 和 LOH 检测的少突胶质细胞瘤的结果。两种检测方法的总体一致性为 81.1%。在 III 级少突胶质细胞瘤中,LOH 在生存分层方面优于 FISH(LOH 优于 FISH,p < 0.0001,而 FISH 优于 FISH,p = 0.02),尽管增加 FISH 解释标准的严格性可以提高一致性和预测能力。通过 FISH 检测到的 1p/19q 缺失但也存在 10q LOH 的少突胶质细胞瘤,在超过 70%的病例中通过 PCR 分析为 1p/19q 缺失阴性,III 级亚组的生存率非常差。因此,尽管基于 PCR 的 LOH 是 1p/19q 状态更好的分层因素,但 FISH 仍然具有临床和预后价值,尤其是如果可以纳入 10q 数据。