Brain Tumor Program, Department of Pediatric and Adolescent Oncology, Gustave Roussy Cancer Institute, Universite Paris Sud, Villejuif, France.
Pediatr Blood Cancer. 2012 Apr;58(4):489-91. doi: 10.1002/pbc.24060. Epub 2011 Dec 20.
Diffuse intrinsic pontine gliomas (DIPG) can not be cured with current treatment modalities. Targeted therapy in this disease would benefit from advanced technologies detecting relevant drugable mutations. Twenty patients with classic newly diagnosed DIPG underwent stereotactic biopsies and were analyzed for the presence of 983 different mutations in 115 oncogenes and tumor-suppressor genes using OncoMap, a mass spectrometric method of allele detection. Our results identified oncogenic mutations in TP53 (40%), PI3KCA (15%), and ATM/MPL (5%) while none were identified in a large number of other genes commonly mutated in malignant gliomas. The identification of oncogenic mutations in the PI3K pathway offers the potential of a therapeutic target at initial diagnosis in this devastating disease.
弥漫性内在脑桥胶质瘤（DIPG）目前无法通过治疗手段治愈。在这种疾病中，靶向治疗将受益于先进的技术来检测相关的可用药突变。20 名患有典型新诊断 DIPG 的患者接受了立体定向活检，并使用 OncoMap（一种等位基因检测的质谱方法）分析了 115 个致癌基因和肿瘤抑制基因中的 983 种不同突变的存在情况。我们的结果确定了 TP53（40%）、PI3KCA（15%）和 ATM/MPL（5%）中的致癌突变，而在许多其他在恶性胶质瘤中常见突变的基因中则没有发现。在这种毁灭性疾病的初始诊断中，PI3K 通路中致癌突变的鉴定为治疗靶点提供了潜在的可能性。
