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

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