细针吸取细胞学标本检测非小细胞肺癌EGFR、KRAS突变的探讨

Clinical Research of EGFR and KRAS Mutation in Fine Needle Aspiration Cytology Specimens of Non-small Cell Lung Carcinoma

背景与目的肺癌患者靶向药物治疗前,需要检测表皮生长因子受体(epidermal growth factor receptor,EGFR)和KRAS基因是否突变。本研究旨在探讨细针吸取悬浮液标本检测非小细胞肺癌EGFR、KRAS基因突变的意义。方法细胞学悬浮液标本,Real-time PCR法检测EGFR 18-21号外显子,KRAS 2号外显子12、13密码子突变。结果检测85例肺癌转移淋巴结针吸标本,EGFR突变率37.3%,KRAS突变率7.2%。19例组织切片标本,与细胞学结果一致(kappa=1.0)。13例有EGFR突变,临床分期IV期患者,使用酪氨酸激酶抑制剂治疗,2例完全缓解(complete remission,CR)(16.7%);8例部分缓解(partial remission,PR)(66.7%);3例最佳稳定疾病(stable disease,SD)(25.0%)。结论细针吸取标本检测EGFR、KRAS基因突变,标本取材容易、简单、方便,具有较高的临床实用性。

Background and objective Epidermal growth factor receptor （EGFR） and KRAS must be detected mutation status before patients of lung cancer use targeted drugs. The aim of this study is to elucidate the significance of EGFR and KRAS mutation in fine needle aspiration （FNA） cytology suspension specimens of non-small cell lung carcinoma. Methods EGFR gene exons 18-21 and KRAS codons 12, 13 of exons 2 were performed by Real-time PCR methods in fine needle aspiration cytology suspension specimens of lymph nodes. Results 85 metastasis lymph nodes were detected in fine needle aspiration cytology samples of lung cancer. EGFR mutation rate was 37.3%. KRAS mutation rate was 7.2%. 19 formalin fixed paraffinembedded tissue specimens were available and match cytology specimens. Analysis of EGFR mutation status in those samples revealed agreement with the results obtained in cytological samples （kappa=1.0）. Clinical follow-up was available for 13 who presented with stage IV disease. Based on the identification of such mutations, these patients received subsequent therapy with a TKI in clinic. We observed two cases complete remission （16.7%） and 8 cases partial remission （66.7%） and three had ongoing stable disease. Conclusion Fine-needle aspiration cytology samples were detected EGFR and KRAS mutation. The method which collects samples was easier, simple and convenient. This method has higher application value in clinical treatment.