Elena Guerini-Rocco , Konstantinos Venetis , Giulia Cursano , Eltjona Mane , Chiara Frascarelli , Francesco Pepe , Mariachiara Negrelli , Edoardo Olmeda , Davide Vacirca , Alberto Ranghiero , Dario Trapani , Carmen Criscitiello , Giuseppe Curigliano , Christian Rolfo , Umberto Malapelle , Nicola Fusco
{"title":"Standardized molecular pathology workflow for ctDNA-based ESR1 testing in HR+/HER2- metastatic breast cancer","authors":"Elena Guerini-Rocco , Konstantinos Venetis , Giulia Cursano , Eltjona Mane , Chiara Frascarelli , Francesco Pepe , Mariachiara Negrelli , Edoardo Olmeda , Davide Vacirca , Alberto Ranghiero , Dario Trapani , Carmen Criscitiello , Giuseppe Curigliano , Christian Rolfo , Umberto Malapelle , Nicola Fusco","doi":"10.1016/j.critrevonc.2024.104427","DOIUrl":null,"url":null,"abstract":"<div><p>Mutations in the estrogen receptor alpha gene (<em>ESR1</em>) can lead to resistance to endocrine therapy (ET) in hormone receptor-positive (HR+)/ HER2- metastatic breast cancer (MBC). <em>ESR1</em> mutations can be detected in up to 40 % of patients pretreated with ET in circulating tumor DNA (ctDNA). Data from prospective randomized trials highlight those patients with HR+/HER2- MBC with detectable <em>ESR1</em> mutations experience better outcomes when receiving novel selective estrogen receptor degraders (SERDs). There is a high need for optimizing <em>ESR1</em> testing strategies on liquid biopsy samples in HR+/HER2- MBC, including a hugh quality workflow implementation and molecular pathology reporting standardization. Our manuscript aims to elucidate the clinical and biological rationale for <em>ESR1</em> testing in MBC, while critically examining the currently available guidelines and recommendations for this specific type of molecular testing on ctDNA. The objective will extend to the critical aspects of harmonization and standardization, specifically focusing on the pathology laboratory workflow. Finally, we propose a clear and comprehensive model for reporting <em>ESR1</em> testing results on ctDNA in HR+/HER2- MBC.</p></div>","PeriodicalId":11358,"journal":{"name":"Critical reviews in oncology/hematology","volume":null,"pages":null},"PeriodicalIF":5.5000,"publicationDate":"2024-06-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Critical reviews in oncology/hematology","FirstCategoryId":"3","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S1040842824001707","RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"HEMATOLOGY","Score":null,"Total":0}
引用次数: 0
Abstract
Mutations in the estrogen receptor alpha gene (ESR1) can lead to resistance to endocrine therapy (ET) in hormone receptor-positive (HR+)/ HER2- metastatic breast cancer (MBC). ESR1 mutations can be detected in up to 40 % of patients pretreated with ET in circulating tumor DNA (ctDNA). Data from prospective randomized trials highlight those patients with HR+/HER2- MBC with detectable ESR1 mutations experience better outcomes when receiving novel selective estrogen receptor degraders (SERDs). There is a high need for optimizing ESR1 testing strategies on liquid biopsy samples in HR+/HER2- MBC, including a hugh quality workflow implementation and molecular pathology reporting standardization. Our manuscript aims to elucidate the clinical and biological rationale for ESR1 testing in MBC, while critically examining the currently available guidelines and recommendations for this specific type of molecular testing on ctDNA. The objective will extend to the critical aspects of harmonization and standardization, specifically focusing on the pathology laboratory workflow. Finally, we propose a clear and comprehensive model for reporting ESR1 testing results on ctDNA in HR+/HER2- MBC.
期刊介绍:
Critical Reviews in Oncology/Hematology publishes scholarly, critical reviews in all fields of oncology and hematology written by experts from around the world. Critical Reviews in Oncology/Hematology is the Official Journal of the European School of Oncology (ESO) and the International Society of Liquid Biopsy.