EGFR19、21外显子突变丰度与NSCLC患者临床特征及吉非替尼疗效的关系

目的 研究表皮生长因子受体(EGFR)基因19、21外显子突变丰度与非小细胞肺癌（NSCLC）患者临床病理特征及吉非替尼疗效的关系。方法 收集2013年10月～2016年11月在本院采用吉非替尼治疗的94例NSCLC患者，采用下一代测序(NGS)法检测血液中EGFR19、21外显子突变情况及突变丰度，统计患者临床病理特征及无进展生存期（PFS）和总生存率（OS），分析EGFR19、21外显子突变丰度与患者临床病理特征及PFS、OS的关系。结果 94例患者检测EGFR19外显子突变59例（62.77％），EGFR21外显子突变35例（37.23％），其中突变高丰度48例，突变低丰度46例；EGFR19、21外显子突变丰度与患者性别、年龄、吸烟史、TNM分期等无关（P＞0.05），与病理类型、组织分化程度有关（P＜0.05）； 高丰度组疾病控制率89.58％高于低丰度组63.04％（P＜0.05）；高丰度组中位PFS（15.98±3.24）个月高于低丰度组（12.06±2.87）个月（P＜0.05）；高丰度组OS 64.58％高于低丰度组OS 39.13％（P＜0.05）。结论 NSCLC患者EGFR基因突变丰度的高低与患者临床病理类型及组织分化程度有关。与低丰度患者相比，EGFR基因突变高丰度的NSCLC患者具有较高的吉非替尼疗效，PFS和OS明显延长。

The Relationships between the Mutation Abundance of Exons 19 and 21 of EGFR Gene with the Clinicopathological Characteristics and Gefitinib Efficacy in Patients with NSCLC

Objective To investigate the relationships between the mutation abundance of exons 19 and 21 of epidermal growth factor receptor (EGFR) gene with the clinicopathological characteristics and gefitinib efficacy in patients with non small cell lung cancer (NSCLC). Methods 94 cases of NSCLC patients treated with Gefitinib in our hospital from October 2013 to November 2016 were collected, the next generation sequencing (NGS) method was used to detect the mutation and mutation abundance of EGFR19 and 21 exons in blood, the clinicopathological features, progression free survival (PFS) and overall survival (OS) were recorded, the relationships between the mutation abundances of EGFR19 and 21 exons with the clinicopathological features, PFS and OS were analyzed. Results In 94 cases of patients, EGFR19 exon mutation was detected in 59 cases (62.77%) and EGFR21 exon mutation in 35 cases (37.23%), including 48 cases with high mutation abundance and 46 cases with low mutation abundance; the mutation abundances of exons EGFR19 and 21 were not correlated with gender, age, smoking history and TNM stage (P > 0.05), but with pathological type and degree of tissue differentiation (P < 0.05); the disease control rate in high abundance group was 89.58%, which was higher than 63.04% in low abundance group (P < 0.05); the median PFS in high abundance group was (15.98±3.24) months, which was higher than (12.06±2.87) months in low abundance group (P < 0.05); OS in high abundance group was 64.58%, which was higher than 39.13% in low abundance group (P < 0.05). Conclusion The abundance of EGFR gene mutation in NSCLC patients is related to the clinicopathological types and the degree of tissue differentiation. Compared with patients with low abundance, NSCLC patients with high EGFR gene mutation had higher gefitinib efficacy, and PFS and OS are prolonged.