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肾细胞癌中表皮生长因子受体(EGFR)、 Kirsten 大鼠肉瘤病毒癌基因(KRAS)和B-Raf原癌基因(BRAF)基因突变的评估

Evaluation of EGFR, KRAS and BRAF gene mutations in renal cell carcinoma.

作者信息

Bayrak Omer, Sen Haluk, Bulut Ersan, Cengiz Beyhan, Karakok Metin, Erturhan Sakip, Seckiner Ilker

机构信息

Department of Urology, Department of Physiology, Department of Pathology, University of Gaziantep, Gaziantep, Turkey; Department of Medical Genetics, University of Gazi, Ankara, Turkey.

出版信息

J Kidney Cancer VHL. 2014 Aug 5;1(4):40-45. doi: 10.15586/jkcvhl.2014.10. eCollection 2014.

Abstract

A subset of renal cell carcinoma (RCC) patients has been shown to respond to anti-EGFR therapy. As KRAS and BRAF mutations are associated with poor response to anti-EGFR therapy in some cancers, it has been suggested that screening for KRAS and BRAF mutations in RCC may be a promising strategy to identify patients who might respond to EGFR-targeted therapy. The aim of this study was to investigate the mutation status of EGFR, KRAS and BRAF in RCC patients. Renal tumors and normal renal samples from forty-eight patients who underwent radical or partial nephrectomy for kidney cancer were used in this study. Histological classification of the tumors was performed according to International Union against Cancer (UICC) / American Joint Committee on Cancer (AJCC) classification. Seventeen patients (48%) had clear-cell RCC, 7 (20%) had chromophobe RCC, and 11 patients (32%) had papillary RCC. DNA isolated from the samples was subjected to melting curve mutation analysis for EGFR, BRAF and KRAS using ABI-3130 DNA sequencer. DNA sequencing analysis of RCC samples, when compared with morphologically normal matched regions, did not show any exon mutations. Our results do not support the notion that EGFR, KRAS and BRAF might be mutated in RCC.

摘要

已证实一部分肾细胞癌(RCC)患者对抗表皮生长因子受体(EGFR)治疗有反应。由于KRAS和BRAF突变在某些癌症中与对抗EGFR治疗的不良反应相关,因此有人提出,筛查RCC患者的KRAS和BRAF突变可能是一种有前景的策略,用于识别可能对抗EGFR靶向治疗有反应的患者。本研究的目的是调查RCC患者中EGFR、KRAS和BRAF的突变状态。本研究使用了48例因肾癌接受根治性或部分肾切除术患者的肾肿瘤和正常肾样本。根据国际抗癌联盟(UICC)/美国癌症联合委员会(AJCC)分类对肿瘤进行组织学分类。17例患者(48%)患有透明细胞RCC,7例(20%)患有嫌色细胞RCC,11例患者(32%)患有乳头状RCC。使用ABI-3130 DNA测序仪对从样本中分离的DNA进行EGFR、BRAF和KRAS的熔解曲线突变分析。与形态学上正常的匹配区域相比,RCC样本的DNA测序分析未显示任何外显子突变。我们的结果不支持EGFR、KRAS和BRAF可能在RCC中发生突变的观点。

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