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分子诊断在癌症诊断与治疗中的作用。

The role of molecular diagnostics in cancer diagnosis and treatment.

作者信息

Ozretić Luka, Heukamp Lukas C, Odenthal Margarete, Buettner Reinhard

机构信息

Institute of Pathology, University Hospital of Cologne, Germany.

出版信息

Onkologie. 2012;35 Suppl 1:8-12. doi: 10.1159/000334823. Epub 2012 Jan 20.

Abstract

The field of molecular diagnostics has improved our understanding of the pathophysiological mechanisms of malignant alteration, especially in lung cancer which remains the leading cause of cancer-related mortality worldwide. The role of the epidermal growth factor receptor (EGFR) and other molecules linked to the EGFR signaling pathway has been extensively studied, and they have become the target of new, specific therapies in lung adenocarcinomas. Similarly, the amplification of the fibroblast growth factor receptor 1 (FGFR1) gene described in squamous cell lung carcinomas has opened new possibilities for molecular targeted therapy. Next generation sequencing (NGS) methods have made possible an even more accurate detection of rare somatic mutations.

摘要

分子诊断领域增进了我们对恶性病变病理生理机制的理解,尤其是在肺癌方面,肺癌仍是全球癌症相关死亡的主要原因。表皮生长因子受体(EGFR)以及与EGFR信号通路相关的其他分子的作用已得到广泛研究,它们已成为肺腺癌新型特异性疗法的靶点。同样,在肺鳞状细胞癌中发现的成纤维细胞生长因子受体1(FGFR1)基因扩增为分子靶向治疗开辟了新的可能性。新一代测序(NGS)方法使更准确地检测罕见体细胞突变成为可能。

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