上皮成長因子受容体(EGFR)体細胞変異の簡易遺伝子診断法開発と臨床応用

Somatic mutations in the epidermal growth factor receptor (EGFR) gene in non-small-cell lung cancers (NSCLC) are a well-established predictive factor for the response of tumors to EGFR tyrosine kinase inhibitors.In the present study,we developed a simple method for detecting somatic mutations in exons 19 and 21 of the EGFR gene,which covers approximately 90% of known mutations in Japanese patients suffering from NSCLC,and evaluated it.Our findings indicated that the presence of around 1% of genes harboring L858R mutation was sufficient for detecting mutation by our method,although a mutation rate of at least 20% appeared to be necessary for direct sequencing detection.Molecular diagnosis to detect target mutations was successful when various DNA samples taken from fresh or frozen biopsy specimens,or formalin-fixed paraffin-embedded (FFPE) blocks or slices for pathological examination,or tumor materials obtained from surgical resection were employed.These results show that our method is a simple,low cost means of achieving rapid,sensitive detection of the major EGFR mutations and that it would be a practical diagnosis procedure for hospitals.