Mehta J
SRL Diagnostics, Centre of Excellence: Histopathology, Lower Parel, Mumbai, Maharashtra, India.
Indian J Cancer. 2013 Apr-Jun;50(2):102-6. doi: 10.4103/0019-509X.117019.
Lung cancer is the leading cause of cancer related mortality world-wide and amongst males in India. The discovery of tyrosine kinase inhibitors holds a ray of hope for a subset of lung cancer patients, which have activating epidermal growth factor receptor (EGFR) mutations. Much of the preliminary data on frequency of EGFR mutations emanated from Western studies, which reported EGFR mutation rates of 10-15%. However, studies from Asian countries report a much higher frequency of EGFR mutations, not only in the male population, but also in females.
The object of this study was to share the author's experience of EGFR mutation testing in 402 lung cancer patients as no large-scale study addressing the issue has been published from India.
Formalin fixed paraffin embedded tissues were analyzed for EGFR exon 19 deletions and exon 21 point mutation by length analysis of fluorescently labeled polymerase chain reaction products on Applied Biosystems Inc. 310 genetic analyzer.
Out of 402 samples, 35 samples could not be analyzed because of poor deoxyribonucleic acid material. Thus of the remaining 367 cases analyzed, EGFR mutations were found in 118 patients (32%). Mutations were equally distributed between males (50%) and females (50%). Majority of the mutations were seen in adenocarcinoma subtype (90%). Exon 19 mutations accounted for 76% while exon 21 mutations accounted for 24% of the mutations.
EGFR mutation frequency is higher in Indian population vis-à-vis Caucasian population, but lower than that reported in the East Asian population. A significantly higher number of males also harbor EGFR mutations.
肺癌是全球以及印度男性中癌症相关死亡的主要原因。酪氨酸激酶抑制剂的发现为一部分具有激活型表皮生长因子受体(EGFR)突变的肺癌患者带来了一线希望。关于EGFR突变频率的许多初步数据来自西方研究,这些研究报告的EGFR突变率为10%-15%。然而,亚洲国家的研究报告称,EGFR突变频率要高得多,不仅在男性人群中如此,在女性中也是如此。
本研究的目的是分享作者对402例肺癌患者进行EGFR突变检测的经验,因为印度尚未发表过针对该问题的大规模研究。
采用应用生物系统公司310基因分析仪,通过对荧光标记的聚合酶链反应产物进行长度分析,检测福尔马林固定石蜡包埋组织中的EGFR第19外显子缺失和第21外显子点突变。
在402个样本中,有35个样本因脱氧核糖核酸材料质量差而无法进行分析。因此,在其余367例分析病例中,118例患者(32%)检测到EGFR突变。突变在男性(50%)和女性(50%)中分布均匀。大多数突变见于腺癌亚型(90%)。第19外显子突变占突变的76%,而第21外显子突变占24%。
印度人群中的EGFR突变频率高于白种人群,但低于东亚人群报告的频率。携带EGFR突变的男性数量也显著更多。