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年轻患者的少突胶质细胞瘤的分子特征。

Molecular profile of oligodendrogliomas in young patients.

机构信息

Department of Pathology, All India Institute of Medical Sciences, New Delhi, India.

出版信息

Neuro Oncol. 2011 Oct;13(10):1099-106. doi: 10.1093/neuonc/nor146.

Abstract

Several studies on molecular profiling of oligodendrogliomas (OGs) in adults have shown a distinctive genetic pattern characterized by combined deletions of chromosome arms 1p and 19q, O6-methylguanine-methyltransferase (MGMT) methylation, and isocitrate dehydrogenase 1 (IDH1) mutation, which have potential diagnostic, prognostic, and even therapeutic relevance. OGs in pediatric and young adult patients are rare and have been poorly characterized on a molecular and biological basis, and it remains uncertain whether markers with prognostic significance in adults also have predictive value in these patients. Fourteen cases of OGs in young patients (age, ≤ 25 years) who received a diagnosis over 7 years were selected (7 pediatric patients age ≤ 18 years and 7 young adults aged 19-25 years). The cases were evaluated for 1p/19q status, MGMT promoter methylation, p53 mutation, and IDH1 mutation. None of the pediatric cases showed 1p/19q deletion. In young adults, combined 1p/19q loss was observed in 57% and isolated 1p loss in 14% of cases. The majority of cases in both subgroups (71% in each) harbored MGMT gene promoter methylation. TP53 and IDH1 mutations were not seen in any of the cases in both the groups. To our knowledge, this is the first study to show that molecular profile of OGs in pediatric and young adult patients is distinct. Further large-scale studies are required to identify additional clinically relevant genetic alterations in this group of patients.

摘要

几项关于成人少突胶质细胞瘤(OGs)分子谱的研究表明,存在独特的遗传模式,其特征是染色体 1p 和 19q 臂的联合缺失、O6-甲基鸟嘌呤-DNA 甲基转移酶(MGMT)甲基化和异柠檬酸脱氢酶 1(IDH1)突变,这些具有潜在的诊断、预后甚至治疗相关性。儿科和年轻成人患者的 OGs 罕见,在分子和生物学基础上特征较差,目前尚不确定成人中具有预后意义的标志物是否在这些患者中也具有预测价值。选择了 7 名≤18 岁的儿科患者和 7 名 19-25 岁的年轻成人共 14 例年轻患者(年龄≤25 岁)的 OGs 病例进行诊断,超过 7 年。评估了这些病例的 1p/19q 状态、MGMT 启动子甲基化、p53 突变和 IDH1 突变。儿科病例中没有观察到 1p/19q 缺失。在年轻成人中,57%的病例存在联合 1p/19q 缺失,14%的病例存在孤立的 1p 缺失。两个亚组(每组均为 71%)的大多数病例均存在 MGMT 基因启动子甲基化。两组病例均未观察到 TP53 和 IDH1 突变。据我们所知,这是第一项表明儿科和年轻成人患者 OGs 的分子谱明显不同的研究。需要进一步的大规模研究来确定该组患者中其他具有临床相关性的遗传改变。

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