Choughule A, Noronha V, Joshi A, Desai S, Jambhekar N, Utture S, Thavamanni A, Prabhash K, Dutt A
Department of Medical Oncology, Tata Memorial Hospital, Navi Mumbai, Maharashtra, India.
Indian J Cancer. 2013 Apr-Jun;50(2):107-11. doi: 10.4103/0019-509X.117023.
The Medical Oncology Department at Tata Memorial Hospital, the single largest tertiary cancer care center in Asia, receives in-house registered and referral patient samples from all parts of the country. Our recent studies establish 23% EGFR mutation frequency among Indian population. Here, we extend our study and report further analysis of distribution of different types of EGFR mutations in 1018 non small cell lung cancer patient, and its co-relation with clinical parameters and geographical variations across the country.
This study is a retrospective analysis on all the patients who were referred for EFGR testing as a routine service over a 1.5 year period. This was part of standard care. EGFR kinase domain mutations in exon 18-21 were probed by TaqMan probe-based assays in 1018 NSCLC patients.
While EGFR exon 19 mutations, the most frequent EGFR mutation, were found be higher among non smokers females, we find surprisingly higher incidence of exon 21 mutations among EGFR mutation positive male smokers of Indian ethnicity. Furthermore, as Indian population is known to be composed of a gradient admixture of Ancestral North Indian (with genetic influence from Middle Easterners, Central Asians, and Europeans harboring variant EGFR mutation frequency) and Ancestral South Indians, as a paradox our study indicates comparable EGFR mutation frequency across different geographical locations within India
Geographically there is uniform distribution in the EGFR mutation frequency within India. Further more, while exon 19 mutations are predominant among non smokers, higher incidence of exon 21 mutations exists among EGFR mutation positive male smokers of Indian ethnicity.
塔塔纪念医院的医学肿瘤学部门是亚洲最大的三级癌症护理中心，接收来自该国各地的内部注册和转诊患者样本。我们最近的研究确定了印度人群中表皮生长因子受体（EGFR）突变频率为23%。在此，我们扩展研究并报告对1018例非小细胞肺癌患者中不同类型EGFR突变分布的进一步分析，及其与临床参数和全国地理差异的相关性。
本研究是对在1.5年期间作为常规服务被转诊进行EGFR检测的所有患者的回顾性分析。这是标准护理的一部分。采用基于TaqMan探针的检测方法对1018例非小细胞肺癌患者的外显子18 - 21中的EGFR激酶结构域突变进行检测。
虽然EGFR外显子19突变是最常见的EGFR突变，在非吸烟女性中发现其比例较高，但我们惊讶地发现，在印度裔EGFR突变阳性男性吸烟者中，外显子21突变的发生率更高。此外，由于已知印度人群由祖先北印度人（受中东人、中亚人和欧洲人遗传影响，携带变异EGFR突变频率）和祖先南印度人的梯度混合组成，矛盾的是，我们的研究表明印度不同地理位置的EGFR突变频率相当。
在印度，EGFR突变频率在地理上分布均匀。此外，虽然外显子19突变在非吸烟者中占主导地位，但在印度裔EGFR突变阳性男性吸烟者中，外显子21突变的发生率更高。
