全外显子测序技术在脑胶质瘤分子机制研究与个体化分子靶向治疗中的前景

Total exon sequencing for molecular mechanism of glioma and individualized molecular targeted therapy

胶质瘤是颅内最常见的恶性肿瘤,肿瘤广泛侵袭、转移,临床尤为难治.目前,手术切除辅以同步放疗和化疗的标准治疗策略效果不尽理想.分子靶向治疗的迅猛发展为临床改善胶质瘤患者预后甚至治愈带来了希望.尽管如此,现阶段的靶向治疗仍然存在诸多局限,探索更多的有效治疗靶点并实现个体化治疗策略是突破当前局限的关键因素.全外显子测序以其高覆盖率、高捕获率和价格经济等优势成为二代测序中最受青睐的检测技术.利用全外显子测序技术,获取关键的基因表达和突变信息,明确潜在的治疗靶点,对患者进行分层管理,实现个体化靶向治疗能使胶质瘤患者获得更大的临床受益.

Gliomas are the most common primary malignant brain tumors with invasion and metastasis. It is well recognized that gliomas are the most challenging diseases in the treatment of cancer. Traditional treatments such as surgical resection and chemotherapy/radiotherapy show poor efficacy. Fortunately, the molecular targeted therapy has been quickly developed and attracted people’s attention for its potential role in improving the prognosis of glioma patients. However, the molecular targeted therapy has limitations at present. It is important to explore more molecular targets and accomplish individualized treatment. Total exon sequencing has great advantages of high sequence coverage, sensitive capture rate and low price in the second generation sequencing techniques. It plays an important role in molecular targeted therapy by detecting key genomic mutations/molecular therapeutic targets and accomplishing individualized treatment. Taken together, the combination of total exon sequencing and molecular targeted therapy could achieve a greater benefit for the clinical treatment of gliomas.