评估埃及非小细胞肺癌患者治疗反应相关基因的突变

Anan Omar, A. Bahnassy, Rabab Gaafer, Eman D. El Desouky, A. Medhat
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引用次数: 5

摘要

背景:表皮生长因子受体(EGFR)和Kirsten大鼠肉瘤病毒癌基因同源物(K-RAS)是非小细胞肺癌腺癌(NSCLC/ADC)患者中最常见的驱动基因,影响治疗。因此,本研究确定了埃及NSCLC/ADC患者中EGFR和K-RAS突变的频率和模式,并将其与临床病理特征联系起来。方法:回顾性分析139例诊断为NSCLC/ADC并进行EGFR和K-RAS突变筛查的患者;进一步评估临床病理特征和突变状态。结果:男性101例,女性38例,中位年龄57.7±10.5岁。EGFR突变占22.3%(第19号外显子12.2%,第21号外显子8.6%,第18号外显子1.4%),K-RAS突变占17.3%(第12号外显子15.8%,第13号外显子1.4%),9例患者(6.5%)检测到联合突变。此外,EGFR突变在女性和非吸烟者中更为常见,这与K-RAS突变在男性和吸烟者中更为常见相矛盾。结论:EGFR和K-RAS突变在埃及NSCLC/ADC患者中很常见(国家癌症研究所经验)。它们的发病率在亚太地区和欧洲之间。此外,它们的突变导致酪氨酸激酶活性失调,这与疾病晚期和不良进展有关。因此,需要对其进行分析,以确定更好的治疗方法并预测生存结果。
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Assessing Mutations in Treatment Response-related Genes in Egyptian Patients with Non-small Cell Lung Cancer
Background: Epidermal growth factor receptor (EGFR) and Kirsten rat sarcoma viral oncogene homolog (K-RAS) are the most common driver genes in patients with non-small cell lung cancer adenocarcinomas (NSCLC/ADC), which affects treatment. Therefore, this study determines the frequency and patterns of EGFR and K-RAS mutations in Egyptian patients with NSCLC/ADC and correlates them with clinicopathological features. Methods: A retrospective analysis of 139 patients diagnosed with NSCLC/ADC and screened for EGFR and K-RAS mutations was conducted; further evaluating clinicopathological characteristics and mutational status. Results: This study included 101 males and 38 females with a median age of 57.7 ± 10.5 years. EGFR mutations were detected in 22.3% (12.2% in exon 19, 8.6% in exon 21, and 1.4% in exon 18) and K-RAS mutations in 17.3% (15.8% in codon 12 and 1.4% in codon 13), whereas combined mutations were detected in nine patients (6.5%). Furthermore, EGFR mutations were non-significantly more common in females and nonsmokers, contradicting K-RAS mutations, which were more common in males and smokers. Conclusion: EGFR and K-RAS mutations are common in Egyptian patients with NSCLC/ADC (National Cancer Institute experience). Their incidences were between the Asian Pacific and Europeans. Also, their mutations led to dysregulation in tyrosine kinase activity, which correlates with the late disease stage and poor progression. Therefore, analyzing them should be done to determine a better treatment method and predict survival outcomes.
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