Caterina De Luca, Francesco Pepe, Pasquale Pisapia, Antonino Iaccarino, Luisella Righi, Angela Listì, Gianluca Russo, Severo Campione, Fabio Pagni, Mariantonia Nacchio, Floriana Conticelli, Maria Russo, Teresa Fabozzi, Elena Vigliar, Claudio Bellevicine, Danilo Rocco, Stefano Laudati, Giuseppe Iannaci, Bruno Daniele, Cesare Gridelli, Diego Luigi Cortinovis, Silvia Novello, Miguel Angel Molina-Vila, Rafael Rosell, Giancarlo Troncone, Umberto Malapelle
{"title":"基于rna的下一代测序在非小细胞肺癌的常规设置:来自意大利转诊中心的经验。","authors":"Caterina De Luca, Francesco Pepe, Pasquale Pisapia, Antonino Iaccarino, Luisella Righi, Angela Listì, Gianluca Russo, Severo Campione, Fabio Pagni, Mariantonia Nacchio, Floriana Conticelli, Maria Russo, Teresa Fabozzi, Elena Vigliar, Claudio Bellevicine, Danilo Rocco, Stefano Laudati, Giuseppe Iannaci, Bruno Daniele, Cesare Gridelli, Diego Luigi Cortinovis, Silvia Novello, Miguel Angel Molina-Vila, Rafael Rosell, Giancarlo Troncone, Umberto Malapelle","doi":"10.2217/pme-2022-0020","DOIUrl":null,"url":null,"abstract":"<p><p><b>Aim:</b> <i>ALK</i>, <i>ROS1</i>, <i>NTRK</i> and <i>RET</i> gene fusions and <i>MET</i> exon 14 skipping alterations represent novel predictive biomarkers for advanced non-small-cell lung cancer (NSCLC). Therefore, testing patients for these genetic variants is crucial for choosing the best selective treatment. Over the last couple of decades, next-generation sequencing (NGS) platforms have emerged as an extremely useful tool for detecting these variants. <b>Materials & methods:</b> In the present study, we report our NGS molecular records produced during a year of diagnostic activity. <b>Results:</b> Overall, our in-house developed NGS workflow successfully analyzed n = 116/131 (88.5%) NSCLC samples. Of these, eight (6.8%) and five (4.3%) out of 116 patients harbored <i>ALK</i> and <i>RET</i> gene rearrangements, respectively: one case harbored <i>ROS1</i> gene fusion (0.7%). <b>Conclusion:</b> Our results highlight that an RNA-based NGS analysis can reliably detect gene fusion alterations, thereby playing a pivotal role in the management of NSCLC patients.</p>","PeriodicalId":19753,"journal":{"name":"Personalized medicine","volume":"19 5","pages":"395-401"},"PeriodicalIF":1.7000,"publicationDate":"2022-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"2","resultStr":"{\"title\":\"RNA-based next-generation sequencing in non-small-cell lung cancer in a routine setting: an experience from an Italian referral center.\",\"authors\":\"Caterina De Luca, Francesco Pepe, Pasquale Pisapia, Antonino Iaccarino, Luisella Righi, Angela Listì, Gianluca Russo, Severo Campione, Fabio Pagni, Mariantonia Nacchio, Floriana Conticelli, Maria Russo, Teresa Fabozzi, Elena Vigliar, Claudio Bellevicine, Danilo Rocco, Stefano Laudati, Giuseppe Iannaci, Bruno Daniele, Cesare Gridelli, Diego Luigi Cortinovis, Silvia Novello, Miguel Angel Molina-Vila, Rafael Rosell, Giancarlo Troncone, Umberto Malapelle\",\"doi\":\"10.2217/pme-2022-0020\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p><b>Aim:</b> <i>ALK</i>, <i>ROS1</i>, <i>NTRK</i> and <i>RET</i> gene fusions and <i>MET</i> exon 14 skipping alterations represent novel predictive biomarkers for advanced non-small-cell lung cancer (NSCLC). Therefore, testing patients for these genetic variants is crucial for choosing the best selective treatment. Over the last couple of decades, next-generation sequencing (NGS) platforms have emerged as an extremely useful tool for detecting these variants. <b>Materials & methods:</b> In the present study, we report our NGS molecular records produced during a year of diagnostic activity. <b>Results:</b> Overall, our in-house developed NGS workflow successfully analyzed n = 116/131 (88.5%) NSCLC samples. Of these, eight (6.8%) and five (4.3%) out of 116 patients harbored <i>ALK</i> and <i>RET</i> gene rearrangements, respectively: one case harbored <i>ROS1</i> gene fusion (0.7%). <b>Conclusion:</b> Our results highlight that an RNA-based NGS analysis can reliably detect gene fusion alterations, thereby playing a pivotal role in the management of NSCLC patients.</p>\",\"PeriodicalId\":19753,\"journal\":{\"name\":\"Personalized medicine\",\"volume\":\"19 5\",\"pages\":\"395-401\"},\"PeriodicalIF\":1.7000,\"publicationDate\":\"2022-09-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"2\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Personalized medicine\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.2217/pme-2022-0020\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2022/7/8 0:00:00\",\"PubModel\":\"Epub\",\"JCR\":\"Q3\",\"JCRName\":\"PHARMACOLOGY & PHARMACY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Personalized medicine","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.2217/pme-2022-0020","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2022/7/8 0:00:00","PubModel":"Epub","JCR":"Q3","JCRName":"PHARMACOLOGY & PHARMACY","Score":null,"Total":0}
RNA-based next-generation sequencing in non-small-cell lung cancer in a routine setting: an experience from an Italian referral center.
Aim:ALK, ROS1, NTRK and RET gene fusions and MET exon 14 skipping alterations represent novel predictive biomarkers for advanced non-small-cell lung cancer (NSCLC). Therefore, testing patients for these genetic variants is crucial for choosing the best selective treatment. Over the last couple of decades, next-generation sequencing (NGS) platforms have emerged as an extremely useful tool for detecting these variants. Materials & methods: In the present study, we report our NGS molecular records produced during a year of diagnostic activity. Results: Overall, our in-house developed NGS workflow successfully analyzed n = 116/131 (88.5%) NSCLC samples. Of these, eight (6.8%) and five (4.3%) out of 116 patients harbored ALK and RET gene rearrangements, respectively: one case harbored ROS1 gene fusion (0.7%). Conclusion: Our results highlight that an RNA-based NGS analysis can reliably detect gene fusion alterations, thereby playing a pivotal role in the management of NSCLC patients.
期刊介绍：
Personalized Medicine (ISSN 1741-0541) translates recent genomic, genetic and proteomic advances into the clinical context. The journal provides an integrated forum for all players involved - academic and clinical researchers, pharmaceutical companies, regulatory authorities, healthcare management organizations, patient organizations and others in the healthcare community. Personalized Medicine assists these parties to shape thefuture of medicine by providing a platform for expert commentary and analysis.
The journal addresses scientific, commercial and policy issues in the field of precision medicine and includes news and views, current awareness regarding new biomarkers, concise commentary and analysis, reports from the conference circuit and full review articles.
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