Francesco Pepe, Konstantinos Venetis, Giulia Cursano, Chiara Frascarelli, Pasquale Pisapia, Davide Vacirca, Claudia Scimone, Alessandra Rappa, Gianluca Russo, Eltjona Mane, Fabio Pagni, Isabella Castellano, Giancarlo Troncone, Carmine De Angelis, Giuseppe Curigliano, Elena Guerini-Rocco, Umberto Malapelle, Nicola Fusco
{"title":"激素受体阳性/HER2 阴性转移性乳腺癌的 PIK3CA 检测：来自意大利分子病理实验室的真实数据。","authors":"Francesco Pepe, Konstantinos Venetis, Giulia Cursano, Chiara Frascarelli, Pasquale Pisapia, Davide Vacirca, Claudia Scimone, Alessandra Rappa, Gianluca Russo, Eltjona Mane, Fabio Pagni, Isabella Castellano, Giancarlo Troncone, Carmine De Angelis, Giuseppe Curigliano, Elena Guerini-Rocco, Umberto Malapelle, Nicola Fusco","doi":"10.2217/pgs-2023-0238","DOIUrl":null,"url":null,"abstract":"<p><p><b>Introduction:</b> <i>PIK3CA</i> gene mutations occur in approximately 40% of hormone receptor-positive/HER2-negative (HR<sup>+</sup>/HER2<sup>-</sup>) metastatic breast cancers (MBCs), electing them to targeted therapy. Testing <i>PIK3CA</i> status is complex due to selection of biological specimen and testing method. <b>Materials & methods:</b> This work investigates real-life experience on <i>PIK3CA</i> testing in HR<sup>+</sup>/HER2<sup>-</sup> MBC. Clinical, technical and molecular data on <i>PIK3CA</i> testing were collected from two referral laboratories. Additionally, the results of a nationwide <i>PIK3CA</i> survey involving 116 institutions were assessed. <b>Results:</b> Overall, n = 35 MBCs were <i>PIK3CA</i>-mutated, with mutations mostly occurring in exons 9 (n = 19; 51.4%) and 20 (n = 15; 40.5%). The nationwide survey revealed significant variability across laboratories in terms of sampling methodology, technical assessment and clinical report signing healthcare figures for <i>PIK3CA</i> molecular testing in diagnostic routine practice. <b>Conclusion:</b> This study provides insights into the real-world routine of <i>PIK3CA</i> testing in HR<sup>+</sup>/HER2<sup>-</sup> MBC and highlights the need for standardization and networking in predictive pathology.</p>","PeriodicalId":20018,"journal":{"name":"Pharmacogenomics","volume":null,"pages":null},"PeriodicalIF":1.9000,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"<i>PIK3CA</i> testing in hormone receptor-positive/HER2-negative metastatic breast cancer: real-world data from Italian molecular pathology laboratories.\",\"authors\":\"Francesco Pepe, Konstantinos Venetis, Giulia Cursano, Chiara Frascarelli, Pasquale Pisapia, Davide Vacirca, Claudia Scimone, Alessandra Rappa, Gianluca Russo, Eltjona Mane, Fabio Pagni, Isabella Castellano, Giancarlo Troncone, Carmine De Angelis, Giuseppe Curigliano, Elena Guerini-Rocco, Umberto Malapelle, Nicola Fusco\",\"doi\":\"10.2217/pgs-2023-0238\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p><b>Introduction:</b> <i>PIK3CA</i> gene mutations occur in approximately 40% of hormone receptor-positive/HER2-negative (HR<sup>+</sup>/HER2<sup>-</sup>) metastatic breast cancers (MBCs), electing them to targeted therapy. Testing <i>PIK3CA</i> status is complex due to selection of biological specimen and testing method. <b>Materials & methods:</b> This work investigates real-life experience on <i>PIK3CA</i> testing in HR<sup>+</sup>/HER2<sup>-</sup> MBC. Clinical, technical and molecular data on <i>PIK3CA</i> testing were collected from two referral laboratories. Additionally, the results of a nationwide <i>PIK3CA</i> survey involving 116 institutions were assessed. <b>Results:</b> Overall, n = 35 MBCs were <i>PIK3CA</i>-mutated, with mutations mostly occurring in exons 9 (n = 19; 51.4%) and 20 (n = 15; 40.5%). The nationwide survey revealed significant variability across laboratories in terms of sampling methodology, technical assessment and clinical report signing healthcare figures for <i>PIK3CA</i> molecular testing in diagnostic routine practice. <b>Conclusion:</b> This study provides insights into the real-world routine of <i>PIK3CA</i> testing in HR<sup>+</sup>/HER2<sup>-</sup> MBC and highlights the need for standardization and networking in predictive pathology.</p>\",\"PeriodicalId\":20018,\"journal\":{\"name\":\"Pharmacogenomics\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":1.9000,\"publicationDate\":\"2024-02-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Pharmacogenomics\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.2217/pgs-2023-0238\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2024/3/5 0:00:00\",\"PubModel\":\"Epub\",\"JCR\":\"Q3\",\"JCRName\":\"PHARMACOLOGY & PHARMACY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Pharmacogenomics","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.2217/pgs-2023-0238","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/3/5 0:00:00","PubModel":"Epub","JCR":"Q3","JCRName":"PHARMACOLOGY & PHARMACY","Score":null,"Total":0}
PIK3CA testing in hormone receptor-positive/HER2-negative metastatic breast cancer: real-world data from Italian molecular pathology laboratories.
Introduction:PIK3CA gene mutations occur in approximately 40% of hormone receptor-positive/HER2-negative (HR+/HER2-) metastatic breast cancers (MBCs), electing them to targeted therapy. Testing PIK3CA status is complex due to selection of biological specimen and testing method. Materials & methods: This work investigates real-life experience on PIK3CA testing in HR+/HER2- MBC. Clinical, technical and molecular data on PIK3CA testing were collected from two referral laboratories. Additionally, the results of a nationwide PIK3CA survey involving 116 institutions were assessed. Results: Overall, n = 35 MBCs were PIK3CA-mutated, with mutations mostly occurring in exons 9 (n = 19; 51.4%) and 20 (n = 15; 40.5%). The nationwide survey revealed significant variability across laboratories in terms of sampling methodology, technical assessment and clinical report signing healthcare figures for PIK3CA molecular testing in diagnostic routine practice. Conclusion: This study provides insights into the real-world routine of PIK3CA testing in HR+/HER2- MBC and highlights the need for standardization and networking in predictive pathology.
期刊介绍：
Pharmacogenomics (ISSN 1462-2416) is a peer-reviewed journal presenting reviews and reports by the researchers and decision-makers closely involved in this rapidly developing area. Key objectives are to provide the community with an essential resource for keeping abreast of the latest developments in all areas of this exciting field.
Pharmacogenomics is the leading source of commentary and analysis, bringing you the highest quality expert analyses from corporate and academic opinion leaders in the field.
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