H Ozkayalar, M C Ergoren, G Tuncel, S Kurt, E Cevik, S Ozemri Sag, B Yilmaz Ozguven, F Kabukcuoglu, G Mocan, Ş G Temel
{"title":"Mutation Status and Immunohistochemical Correlation of <i>EGFR</i> Mutations in Gastrointestinal Stromal Tumors.","authors":"H Ozkayalar, M C Ergoren, G Tuncel, S Kurt, E Cevik, S Ozemri Sag, B Yilmaz Ozguven, F Kabukcuoglu, G Mocan, Ş G Temel","doi":"10.2478/bjmg-2021-0006","DOIUrl":null,"url":null,"abstract":"<p><p>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 (<i>EGFR</i>) mutations that are related to treatment regimes in non small cell lung cancer (NSCLC) to understand whether <i>EGFR</i> expression is altered in GISTs. Established alterations in <i>EGFR</i> can make the use of tyrosine kinase inhibitors possible, which are currently used in cancer therapy, especially in NSCLC. Our results indicated that <i>EGFR</i> mutations are rare in GISTs. Further research is needed to sequence whole coding regions of the gene to investigate new actionable mutations in <i>EGFR</i> in an increased sample size.</p>","PeriodicalId":55403,"journal":{"name":"Balkan Journal of Medical Genetics","volume":"24 1","pages":"67-72"},"PeriodicalIF":0.5000,"publicationDate":"2021-07-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/8d/b5/bjmg-24-067.PMC8366477.pdf","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Balkan Journal of Medical Genetics","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.2478/bjmg-2021-0006","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2021/6/1 0:00:00","PubModel":"eCollection","JCR":"Q4","JCRName":"GENETICS & HEREDITY","Score":null,"Total":0}
引用次数: 0
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.
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.