Mutation Status and Immunohistochemical Correlation of EGFR Mutations in Gastrointestinal Stromal Tumors.

IF 0.5 4区 医学 Q4 GENETICS & HEREDITY Balkan Journal of Medical Genetics Pub Date : 2021-07-27 eCollection Date: 2021-06-01 DOI:10.2478/bjmg-2021-0006
H Ozkayalar, M C Ergoren, G Tuncel, S Kurt, E Cevik, S Ozemri Sag, B Yilmaz Ozguven, F Kabukcuoglu, G Mocan, Ş G Temel
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Abstract

Being one of the leading causes of cancer deaths worldwide and their resistance to conventional treatment methods, made gastrointestinal stromal tumors (GISTs) one of the hot topics in medical research areas in the past decade. To investigate molecular alterations underlying the tumor is of great importance to be able to develop new, targeted treatment options. In this study, GIST samples obtained from 40 Turkish patients were analyzed for actionable epidermal growth factor receptor (EGFR) mutations that are related to treatment regimes in non small cell lung cancer (NSCLC) to understand whether EGFR expression is altered in GISTs. Established alterations in EGFR can make the use of tyrosine kinase inhibitors possible, which are currently used in cancer therapy, especially in NSCLC. Our results indicated that EGFR mutations are rare in GISTs. Further research is needed to sequence whole coding regions of the gene to investigate new actionable mutations in EGFR in an increased sample size.

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胃肠道间质瘤中EGFR突变的突变状态及免疫组化相关性
胃肠道间质瘤(gist)是世界范围内癌症死亡的主要原因之一,对常规治疗方法具有耐药性,是近十年来医学研究领域的热点之一。研究肿瘤的分子变化对于开发新的靶向治疗方案具有重要意义。在这项研究中,研究人员分析了来自40名土耳其患者的GIST样本,分析了与非小细胞肺癌(NSCLC)治疗方案相关的可激活的表皮生长因子受体(EGFR)突变,以了解EGFR表达是否在GIST中发生改变。EGFR的改变可以使酪氨酸激酶抑制剂的使用成为可能,酪氨酸激酶抑制剂目前用于癌症治疗,特别是非小细胞肺癌。我们的研究结果表明,EGFR突变在gist中是罕见的。进一步的研究需要对基因的整个编码区域进行测序,以在增加的样本量中研究EGFR中新的可操作突变。
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CiteScore
1.00
自引率
0.00%
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0
审稿时长
>12 weeks
期刊介绍: Balkan Journal of Medical Genetics is a journal in the English language for publication of articles involving all branches of medical genetics: human cytogenetics, molecular genetics, clinical genetics, immunogenetics, oncogenetics, pharmacogenetics, population genetics, genetic screening and diagnosis of monogenic and polygenic diseases, prenatal and preimplantation genetic diagnosis, genetic counselling, advances in treatment and prevention.
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