2013年美国分子病理协会肺腺癌基因检测指南

Lung cancer is the leading cause of cancer-related mortality, accounting for approximately 1.4 million deaths per year worldwide and approximately 160 000 deaths per year in the United States, which is approximately 25% to 30% of all US cancer deaths and more than the next 3 cancers (colon, prostate, breast) combined.1 Fortunately, the past decade has seen major advances in our understanding of the pathogenesis and management of lung cancers, adenocarcinoma in particular. Specifically, the discovery of the biologic and therapeutic importance of acquired genetic alterations in 2 genes that encode pharmacologically targetable tyrosine kinases involved in growth factor receptor signaling, epidermal growth factor receptor (EGFR) and anaplastic lymphoma kinase (ALK), has changed the way these cancers are diagnosed and treated.

As gefitinib and erlotinib, small-molecule competitive inhibitors of the EGFR tyrosine kinase, were being evaluated in clinical trials of advanced-stage lung cancer in the early part of the last decade, unusual prolonged responses to these medications were recognized in a subset of patients. This unusual clinical behavior, not seen previously with standard chemotherapy, led to investigations that identified a correlation between activating somatic mutation in the EGFR gene and clinical response to gefitinib and erlotinib.