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首页> 外文期刊>Neuro-Oncology >Prevalence, clinico-pathological value, and cooccurrence of PDGFRA abnormalities in diffuse gliomas
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Prevalence, clinico-pathological value, and cooccurrence of PDGFRA abnormalities in diffuse gliomas

机译：弥漫性胶质瘤的PDGFRA异常的患病率，临床病理学价值和同时发生

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摘要

PDGFRA is a critical gene in glioma biology. Similar to EGFR, PDGFRA has been shown to be overexpressed, amplified, mutated, or truncated in gliomas, particularly glioblastomas. In addition, PDGFRA has been recently shown to be rearranged in glioblastoma. However, the frequency, cooccurrence, and clinical value of PDGFRA abnormalities in diffuse gliomas remain unclear. We investigated PDGFRA abnormalities and their clinical impact on 619 primary diffuse gliomas, including 167 grade II, 168 grade III, and 284 grade IV gliomas, with use of BAC-aCGH and validated our findings by quantitative polymerase chain reaction (PCR). We studied PDGFRA expression using reverse-transcription quantitative PCR in 84 gliomas and 12 non-tumor samples. In 138 samples, we also screened PDGFRA point mutations in exons 5, 7, 8, 9, 10, 11, and 23; presence of KDR-PDGFRA fusion gene; and PDGFRA truncation. PDGFRA was amplified and gained in 5.2% and 1.9% of samples, respectively. In addition PDGFRA was point-mutated, rearranged, and truncated in 2.9%, 0%, and 0.7% of cases, respectively. PDGFRA point mutations were observed exclusively in grade IV gliomas and in 12.5% of PDGFKA-amplified tumors. High- level PDGFRA amplification was associated with PDGFRA overexpression, high malignancy grade, and older patient age. Of interest, high-level PDGFRA amplification has an independent negative prognostic value for progression-free survival and overall survival among patients with grade HI tumors. PDGFRA is altered through various genetic mechanisms in a subset of high-grade gliomas in patients who might be ideal candidates for PDGFRA inhibitor treatment, and PDGFRA gene amplification could be used as a prognostic biomarker in anaplastic gliomas.
机译：PDGFRA是神经胶质瘤生物学中的关键基因。与EGFR相似，PDGFRA已显示在神经胶质瘤（尤其是胶质母细胞瘤）中过表达，扩增，突变或截短。此外，PDGFRA最近已显示在胶质母细胞瘤中重排。但是，弥漫性胶质瘤PDGFRA异常的发生频率，同时发生和临床价值尚不清楚。我们使用BAC-aCGH调查了PDGFRA异常及其对619例原发性弥漫性胶质瘤的临床影响，包括167例II级，168例III级和284例IV级神经胶质瘤，并通过定量聚合酶链反应（PCR）验证了我们的发现。我们使用逆转录定量PCR研究了84个神经胶质瘤和12个非肿瘤样品中PDGFRA的表达。在138个样本中，我们还筛选了外显子5、7、8、9、10、11和23中的PDGFRA点突变； KDR-PDGFRA融合基因的存在；和PDGFRA截断。 PDGFRA分别在5.2％和1.9％的样品中扩增并获得。此外，分别在2.9％，0％和0.7％的情况下对PDGFRA进行了点突变，重新排列和截断。仅在IV级神经胶质瘤和12.5％的PDGFKA扩增肿瘤中观察到PDGFRA点突变。高水平PDGFRA扩增与PDGFRA过表达，高恶性等级和患者年龄较大有关。有趣的是，高水平PDGFRA扩增对HI级肿瘤患者的无进展生存期和总体生存期具有独立的阴性预后价值。 PDGFRA通过多种遗传机制改变了可能是PDGFRA抑制剂治疗的理想候选者的部分高级别神经胶质瘤的患者，并且PDGFRA基因扩增可用作间变性神经胶质瘤的预后生物标志物。

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  • 来源
    《Neuro-Oncology》 |2012年第11期|1393-1403|共11页
  • 作者

    Agusti Alentorn; Yannick Marie; Catherine Carpentier; Blandine Boisselier; Marine Giry; Marianne Labussiere; Karima Mokhtari; Khe Hoang-Xuan; Marc Sanson; Jean-Yves Delattre; Ahmed Idbaih;

  • 作者单位

    CRICM, INSERM UMRS975/CNRS UMR 7225/UPMC, AP-HP, Groupe Hospitalier Pitie-Salpetriere, Department of Neurology2-Mazarin;

    CRICM, Sequencing and Genotyping platform - ICM;

    CRICM, INSERM UMRS975/CNRS UMR 7225/UPMC;

    CRICM, INSERM UMRS975/CNRS UMR 7225/UPMC;

    CRICM, INSERM UMRS975/CNRS UMR 7225/UPMC;

    CRICM, INSERM UMRS975/CNRS UMR 7225/UPMC;

    AP-HP, Groupe Hospitalier Pitie-Salpetriere, Department of Neuropathology, Paris, France;

    CRICM, INSERM UMRS975/CNRS UMR 7225/UPMC, AP-HP, Groupe Hospitalier Pitie-Salpetriere, Department of Neurology2-Mazarin;

    CRICM, INSERM UMRS975/CNRS UMR 7225/UPMC, AP-HP, Groupe Hospitalier Pitie-Salpetriere, Department of Neurology2-Mazarin;

    CRICM, INSERM UMRS975/CNRS UMR 7225/UPMC, AP-HP, Groupe Hospitalier Pitie-Salpetriere, Department of Neurology2-Mazarin;

    Service de Neurologie 2-Mazarin, Groupe Hospitalier Pitie-Salpetriere. 47-83, Boulevard de l'Hopital, 75013 Paris, France;

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  • 正文语种 eng
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  • 关键词

    amplification; glioma; mutation; PDGFRA; prognosis;

    机译：放大;胶质瘤突变;PDGFRA;预后;

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