{"title":"RNA-based next-generation sequencing approach to non-small cell lung cancer: A single center experience in Turkey.","authors":"Orhan Gorukmez, Ozlem Gorukmez, Ali Topak","doi":"10.1159/000544697","DOIUrl":null,"url":null,"abstract":"<p><strong>Introduction: </strong>Lung cancer is a global health concern. Molecular analysis of tumor tissues, especially in non-small cell lung cancers, has become an integral part of a holistic approach to the management of the disease. Here, molecular genetic data obtained from tumor tissues collected from 373 male and 89 female patients referred to our clinic with a diagnosis of non-small cell lung cancer are presented.</p><p><strong>Methods: </strong>Patient samples (n=462) were assessed via next-generation sequencing using an RNA-based kit containing 36 genes. Data obtained were analyzed using relevant software, and results of analysis are presented together with the demographic characteristics of the patients.</p><p><strong>Results: </strong>Significant somatic variations were detected in 208 of 462 patients. KRAS and EGFR had the greatest variations. Rearrangements, mostly involving ALK, were observed in 37 patients, and rare complex changes involving different genes were detected in 10 patients.</p><p><strong>Conclusion: </strong>This study presents the comprehensive molecular data obtained using an RNA-based kit that provided information on single nucleotide variation (SNV)/insertion-deletion variants (IndDel) and rearrangements in a large patient series from a single center. Somatic variants were detected in approximately 45% of all patients. According to the Catalogue of Somatic Mutations In Cancer (COSMIC) database, our rate of variants detected in KRAS and FGFR3 genes was higher. The rate of variants detected in other genes was lower. In addition, fusions not reported in COSMIC were detected. With the development of next-generation sequencing-based tests and an increase in their use, a broad perspective has been provided to many disease groups, including solid tissue cancers, especially non-small cell lung cancers.</p>","PeriodicalId":13226,"journal":{"name":"Human Heredity","volume":" ","pages":"1-14"},"PeriodicalIF":1.1000,"publicationDate":"2025-02-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Human Heredity","FirstCategoryId":"99","ListUrlMain":"https://doi.org/10.1159/000544697","RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"GENETICS & HEREDITY","Score":null,"Total":0}
引用次数: 0
Abstract
Introduction: Lung cancer is a global health concern. Molecular analysis of tumor tissues, especially in non-small cell lung cancers, has become an integral part of a holistic approach to the management of the disease. Here, molecular genetic data obtained from tumor tissues collected from 373 male and 89 female patients referred to our clinic with a diagnosis of non-small cell lung cancer are presented.
Methods: Patient samples (n=462) were assessed via next-generation sequencing using an RNA-based kit containing 36 genes. Data obtained were analyzed using relevant software, and results of analysis are presented together with the demographic characteristics of the patients.
Results: Significant somatic variations were detected in 208 of 462 patients. KRAS and EGFR had the greatest variations. Rearrangements, mostly involving ALK, were observed in 37 patients, and rare complex changes involving different genes were detected in 10 patients.
Conclusion: This study presents the comprehensive molecular data obtained using an RNA-based kit that provided information on single nucleotide variation (SNV)/insertion-deletion variants (IndDel) and rearrangements in a large patient series from a single center. Somatic variants were detected in approximately 45% of all patients. According to the Catalogue of Somatic Mutations In Cancer (COSMIC) database, our rate of variants detected in KRAS and FGFR3 genes was higher. The rate of variants detected in other genes was lower. In addition, fusions not reported in COSMIC were detected. With the development of next-generation sequencing-based tests and an increase in their use, a broad perspective has been provided to many disease groups, including solid tissue cancers, especially non-small cell lung cancers.
期刊介绍：
Gathering original research reports and short communications from all over the world, ''Human Heredity'' is devoted to methodological and applied research on the genetics of human populations, association and linkage analysis, genetic mechanisms of disease, and new methods for statistical genetics, for example, analysis of rare variants and results from next generation sequencing. The value of this information to many branches of medicine is shown by the number of citations the journal receives in fields ranging from immunology and hematology to epidemiology and public health planning, and the fact that at least 50% of all ''Human Heredity'' papers are still cited more than 8 years after publication (according to ISI Journal Citation Reports). Special issues on methodological topics (such as ‘Consanguinity and Genomics’ in 2014; ‘Analyzing Rare Variants in Complex Diseases’ in 2012) or reviews of advances in particular fields (‘Genetic Diversity in European Populations: Evolutionary Evidence and Medical Implications’ in 2014; ‘Genes and the Environment in Obesity’ in 2013) are published every year. Renowned experts in the field are invited to contribute to these special issues.
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