Sci Transl Med. 2013 Oct 30;5(209):209ra153. doi: 10.1126/scitranslmed.3006802.
We characterized genome alterations in 1255 clinically annotated lung tumors of all histological subgroups to identify genetically defined and clinically relevant subtypes. More than 55% of all cases had at least one oncogenic genome alteration potentially amenable to specific therapeutic intervention, including several personalized treatment approaches that are already in clinical evaluation. Marked differences in the pattern of genomic alterations existed between and within histological subtypes, thus challenging the original histomorphological diagnosis. Immunohistochemical studies confirmed many of these reassigned subtypes. The reassignment eliminated almost all cases of large cell carcinomas, some of which had therapeutically relevant alterations. Prospective testing of our genomics-based diagnostic algorithm in 5145 lung cancer patients enabled a genome-based diagnosis in 3863 (75%) patients, confirmed the feasibility of rational reassignments of large cell lung cancer, and led to improvement in overall survival in patients with EGFR-mutant or ALK-rearranged cancers. Thus, our findings provide support for broad implementation of genome-based diagnosis of lung cancer.
我们对 1255 例临床标注的肺肿瘤进行了基因组改变特征分析,以鉴定出具有遗传定义和临床相关性的亚型。超过 55%的所有病例至少有一种潜在的可进行特定治疗干预的致癌基因组改变,包括几种已经在临床评估中的个性化治疗方法。组织学亚型之间和内部的基因组改变模式存在明显差异,从而对原始的组织形态学诊断提出了挑战。免疫组织化学研究证实了许多这些重新分配的亚型。这种重新分配消除了几乎所有大细胞癌病例,其中一些具有治疗相关的改变。在 5145 例肺癌患者中对我们基于基因组的诊断算法进行前瞻性测试,使 3863 例(75%)患者能够进行基于基因组的诊断,证实了对大细胞肺癌进行合理重新分配的可行性,并导致 EGFR 突变或 ALK 重排癌症患者的总体生存率提高。因此,我们的发现为广泛实施肺癌的基于基因组的诊断提供了支持。
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