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Walid Zeyghami Department of Otorhinolaryngology, Head and Neck Surgery and Audiology, University Hospital Rigshospitalet, University of Copenhagen, Copenhagen, Denmark

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Marie-Louise Uhre Hansen Department of Otorhinolaryngology, Head and Neck Surgery and Audiology, University Hospital Rigshospitalet, University of Copenhagen, Copenhagen, Denmark

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Kathrine Kronberg Jakobsen Department of Otorhinolaryngology, Head and Neck Surgery and Audiology, University Hospital Rigshospitalet, University of Copenhagen, Copenhagen, Denmark

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Christian Groenhøj Department of Otorhinolaryngology, Head and Neck Surgery and Audiology, University Hospital Rigshospitalet, University of Copenhagen, Copenhagen, Denmark

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Ulla Feldt-Rasmussen Department of Endocrinology, University Hospital Rigshospitalet, University of Copenhagen, Copenhagen, Denmark
Department of Clinical Medicine, Faculty of Health and Clinical Sciences, University of Copenhagen, Copenhagen, Denmark

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Christian von Buchwald Department of Otorhinolaryngology, Head and Neck Surgery and Audiology, University Hospital Rigshospitalet, University of Copenhagen, Copenhagen, Denmark
Department of Clinical Medicine, Faculty of Health and Clinical Sciences, University of Copenhagen, Copenhagen, Denmark

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Christoffer Holst Hahn Department of Otorhinolaryngology, Head and Neck Surgery and Audiology, University Hospital Rigshospitalet, University of Copenhagen, Copenhagen, Denmark

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in cancer patients is due to an increase in the release of circulating tumor DNA (ctDNA) ( Payne et al. 2018 ). The challenge is to discriminate between ctDNA and DNA from normal healthy tissue. One way is to utilize somatic mutations found in

Article Type:
Systematic Review
DOI:
https://doi.org/10.1530/ERC-23-0002
Volume/Issue:
Volume 30: Issue 12
Free access
Kristina Warton Garvan Institute of Medical Research, Chris O'Brien Lifehouse, The Kinghorn Cancer Centre and St Vincent's Clinical School, 370 Victoria Street, Darlinghurst, Sydeny, New South Wales, Australia

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Kate L Mahon Garvan Institute of Medical Research, Chris O'Brien Lifehouse, The Kinghorn Cancer Centre and St Vincent's Clinical School, 370 Victoria Street, Darlinghurst, Sydeny, New South Wales, Australia
Garvan Institute of Medical Research, Chris O'Brien Lifehouse, The Kinghorn Cancer Centre and St Vincent's Clinical School, 370 Victoria Street, Darlinghurst, Sydeny, New South Wales, Australia

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Goli Samimi Garvan Institute of Medical Research, Chris O'Brien Lifehouse, The Kinghorn Cancer Centre and St Vincent's Clinical School, 370 Victoria Street, Darlinghurst, Sydeny, New South Wales, Australia

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; and repeated biopsies from a patient are not practicable. Circulating tumor DNA (ctDNA) containing the same molecular aberrations as the solid tumor is detectable in the bloodstream of many cancer patients ( Ignatiadis & Dawson 2014 ), and sampling it

Article Type:
Review Article
DOI:
https://doi.org/10.1530/ERC-15-0369
Volume/Issue:
Volume 23: Issue 3
Open access
Simon Garinet Institut Cochin INSERM U1016/UMR8104 and CNRS UMR-S8104, Paris, France

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Juliette Nectoux Laboratory of Genetics and Molecular Biology, Hôpital Cochin, Assistance Publique – Hôpitaux de Paris, Paris, France

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Mario Neou Institut Cochin INSERM U1016/UMR8104 and CNRS UMR-S8104, Paris, France

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Eric Pasmant Laboratory of Genetics and Molecular Biology, Hôpital Cochin, Assistance Publique – Hôpitaux de Paris, Paris, France
INSERM UMR745, Biological and Pharmaceutical Sciences University, Université Paris Descartes, Sorbonne Paris Cité, Paris, France

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Anne Jouinot Institut Cochin INSERM U1016/UMR8104 and CNRS UMR-S8104, Paris, France
Department of Medical Oncology, Hôpital Cochin, Assistance Publique – Hôpitaux de Paris, Paris, France

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Mathilde Sibony Department of Pathology, Hôpital Cochin, Assistance Publique – Hôpitaux de Paris, Paris, France

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Lucie Orhant Laboratory of Genetics and Molecular Biology, Hôpital Cochin, Assistance Publique – Hôpitaux de Paris, Paris, France

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Juliana Pipoli da Fonseca Institut Cochin GENOMI’C Platform, Paris, France

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Karine Perlemoine Institut Cochin INSERM U1016/UMR8104 and CNRS UMR-S8104, Paris, France

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Léopoldine Bricaire Department of Endocrinology, Cochin Hospital, Assistance Publique – Hôpitaux de Paris, Paris, France

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Lionel Groussin Institut Cochin INSERM U1016/UMR8104 and CNRS UMR-S8104, Paris, France
Department of Endocrinology, Cochin Hospital, Assistance Publique – Hôpitaux de Paris, Paris, France

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Olivier Soubrane Department of Hepato-Pancreato-Biliary Surgery, Hôpital Beaujon, Assistance Publique – Hôpitaux de Paris, Paris, France

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Bertrand Dousset Department of Digestive and Endocrine Surgery, Assistance Publique – Hôpitaux de Paris, Paris, France

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Rossella Libe Institut Cochin INSERM U1016/UMR8104 and CNRS UMR-S8104, Paris, France
Department of Endocrinology, Cochin Hospital, Assistance Publique – Hôpitaux de Paris, Paris, France

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Franck Letourneur Institut Cochin GENOMI’C Platform, Paris, France

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Jérome Bertherat Institut Cochin INSERM U1016/UMR8104 and CNRS UMR-S8104, Paris, France
Department of Endocrinology, Cochin Hospital, Assistance Publique – Hôpitaux de Paris, Paris, France
Reference Center for Rare Adrenal Diseases, Reference Center for Rare Adrenal Cancer Network COMETE, Hôpital Cochin, AssistancePublique – Hôpitaux de Paris, Paris, France

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Guillaume Assié Institut Cochin INSERM U1016/UMR8104 and CNRS UMR-S8104, Paris, France
Department of Endocrinology, Cochin Hospital, Assistance Publique – Hôpitaux de Paris, Paris, France
Reference Center for Rare Adrenal Diseases, Reference Center for Rare Adrenal Cancer Network COMETE, Hôpital Cochin, AssistancePublique – Hôpitaux de Paris, Paris, France

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surrogate biomarkers for detecting circulating tumor DNA (ctDNA) in blood. This ctDNA corresponds to fragments of DNA released directly by tumor cells into the blood stream among the circulating cell-free DNA (ccfDNA). Discrimination of ctDNA from ccfDNA of

Article Type:
Letter
DOI:
https://doi.org/10.1530/ERC-17-0467
Volume/Issue:
Volume 25: Issue 3
Free access
Masaki Shiota Department of Urology, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan

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Shusuke Akamatsu Department of Urology, Graduate School of Medicine, Kyoto University, Kyoto, Japan

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Shigehiro Tsukahara Department of Urology, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan

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Shohei Nagakawa Department of Urology, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan

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Takashi Matsumoto Department of Urology, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan

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Masatoshi Eto Department of Urology, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan

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et al. 2009 ). Among them, several mutations in the LBD were frequently and reproducibly detected in tissues and circulating tumor DNA (ctDNA) from patients with prostate cancer by NGS ( Table 2 ). In a study using prostate cancer tissues, T878A (2

Article Type:
Review Article
DOI:
https://doi.org/10.1530/ERC-22-0140
Volume/Issue:
Volume 29: Issue 10
Free access
Mark Daniel Masonic Cancer Center, University of Minnesota
Graduate Program in Microbiology, Immunology, and Cancer Biology, University of Minnesota, Minneapolis, Minnesota, USA

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Todd P Knutson University of Minnesota Supercomputing Institute, University of Minnesota, Minneapolis, Minnesota, USA

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Jamie M Sperger Department of Medicine, University of Wisconsin-Madison, Madison, Wisconsin, USA
Carbone Cancer Center, University of Wisconsin-Madison, Madison, Wisconsin, USA

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Yingming Li Masonic Cancer Center, University of Minnesota

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Anupama Singh Carbone Cancer Center, University of Wisconsin-Madison, Madison, Wisconsin, USA

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Charlotte N Stahlfeld Department of Medicine, University of Wisconsin-Madison, Madison, Wisconsin, USA
Carbone Cancer Center, University of Wisconsin-Madison, Madison, Wisconsin, USA

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Courtney Passow University of Minnesota Genomics Center, University of Minnesota, Minneapolis, Minnesota, USA

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Benjamin Auch University of Minnesota Genomics Center, University of Minnesota, Minneapolis, Minnesota, USA

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Joshua M Lang Department of Medicine, University of Wisconsin-Madison, Madison, Wisconsin, USA
Carbone Cancer Center, University of Wisconsin-Madison, Madison, Wisconsin, USA

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Scott M Dehm Masonic Cancer Center, University of Minnesota
Department of Laboratory Medicine and Pathology, University of Minnesota, Minneapolis, Minnesota, USA
Department of Urology, University of Minnesota, Minneapolis, Minnesota, USA

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resistance to the second-generation hormonal therapies abiraterone and enzalutamide ( Antonarakis et al. 2014 , 2015 , Scher et al. 2016 , 2018 ). Another common liquid biopsy approach is the detection of circulating tumor DNA (ctDNA) shed from

Article Type:
Research Article
DOI:
https://doi.org/10.1530/ERC-21-0157
Volume/Issue:
Volume 28: Issue 9
Restricted access
Laura Gerard Service de Gastroentérologie et d’Oncologie Médicale, Hospices Civils de Lyon, Hôpital Edouard Herriot, Lyon, France
Gastroenterology and Technologies for Health, Centre de Cancérologie de Lyon, INSERM U1052-CNRS UMR5286, Centre Léon Bérard, Lyon, France

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Céline Patte Gastroenterology and Technologies for Health, Centre de Cancérologie de Lyon, INSERM U1052-CNRS UMR5286, Centre Léon Bérard, Lyon, France

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Laurence Chardon Service de Biochimie Biologie Moléculaire, Centre de Biologie Est, Hospices Civils de Lyon, Bron, France

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Valérie Hervieu Gastroenterology and Technologies for Health, Centre de Cancérologie de Lyon, INSERM U1052-CNRS UMR5286, Centre Léon Bérard, Lyon, France
Service Central d’Anatomie et Cytologie Pathologiques, Hospices Civils de Lyon, Hôpital Edouard Herriot, Lyon, France

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Léa Payen Institut de Cancérologie des Hospices Civils de Lyon, CIRculating CANcer Program (CIRCAN), Lyon, France

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Marion Allio Gastroenterology and Technologies for Health, Centre de Cancérologie de Lyon, INSERM U1052-CNRS UMR5286, Centre Léon Bérard, Lyon, France

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Claire Marx Service d'Endocrinologie-Diabète-Nutrition, Hospices Civils de Lyon, Hôpital Lyon Sud, Lyon, France

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Hugo Clermidy Service de Chirurgie Thoracique, Vidéothoracoscopie et Transplantation Pulmonaire, Hospices Civils de Lyon, Hôpital Louis Pradel, Lyon, France

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Alice Durand Service de Gastroentérologie et d’Oncologie Médicale, Hospices Civils de Lyon, Hôpital Edouard Herriot, Lyon, France

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Patrick Mehlen Gastroenterology and Technologies for Health, Centre de Cancérologie de Lyon, INSERM U1052-CNRS UMR5286, Centre Léon Bérard, Lyon, France

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Julien Bollard Gastroenterology and Technologies for Health, Centre de Cancérologie de Lyon, INSERM U1052-CNRS UMR5286, Centre Léon Bérard, Lyon, France

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Gilles Poncet Service de Chirurgie Digestive, Hospices Civils de Lyon, Hôpital Edouard Herriot, Lyon, France

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Colette Roche Gastroenterology and Technologies for Health, Centre de Cancérologie de Lyon, INSERM U1052-CNRS UMR5286, Centre Léon Bérard, Lyon, France

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Benjamin Gibert Gastroenterology and Technologies for Health, Centre de Cancérologie de Lyon, INSERM U1052-CNRS UMR5286, Centre Léon Bérard, Lyon, France

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Thomas Walter Service de Gastroentérologie et d’Oncologie Médicale, Hospices Civils de Lyon, Hôpital Edouard Herriot, Lyon, France
Gastroenterology and Technologies for Health, Centre de Cancérologie de Lyon, INSERM U1052-CNRS UMR5286, Centre Léon Bérard, Lyon, France

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. 2021 ). In patients with cancer, the circulating tumour DNA (ctDNA) originates from tumour cells and represents a small fraction of circulating cell-free DNA (cfDNA). It can reflect the tumour mutational burden and is correlated with disease course in

Article Type:
Research Article
DOI:
https://doi.org/10.1530/ERC-24-0052
Volume/Issue:
Volume 31: Issue 6
Restricted access
Enzo Lalli Université Côte d’Azur, Valbonne, France
CNRS UMR7275, Valbonne, France
NEOGENEX CNRS International Associated Laboratory, Valbonne, France
Institut de Pharmacologie Moléculaire et Cellulaire, Valbonne, France

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Michaela Luconi Department of Experimental and Clinical Biomedical Sciences ‘Mario Serio’, University of Florence, Florence, Italy

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referred to a simple blood draw that can provide material released from the tumor into the bloodstream, such as circulating tumor cells (CTCs), miRNAs, exosomes and cell-free DNA of tumor origin (ctDNA) ( Fig. 2 ). This is a novel and minimally invasive

Article Type:
Review Article
DOI:
https://doi.org/10.1530/ERC-17-0440
Volume/Issue:
Volume 25: Issue 2
Free access
Darren Cowzer Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, New York, USA

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Ronak H Shah Kravis Center for Molecular Oncology, Memorial Sloan Kettering Cancer Center, New York, New York, USA

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Joanne F Chou Department of Epidemiology and Biostatistics, Memorial Sloan Kettering Cancer Center, New York, New York, USA

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Ritika Kundra Kravis Center for Molecular Oncology, Memorial Sloan Kettering Cancer Center, New York, New York, USA

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Sippy Punn Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, New York, USA

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Laura Fiedler Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, New York, USA

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April DeMore Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, New York, USA

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Marinela Capanu Department of Epidemiology and Biostatistics, Memorial Sloan Kettering Cancer Center, New York, New York, USA

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Michael F Berger Kravis Center for Molecular Oncology, Memorial Sloan Kettering Cancer Center, New York, New York, USA
Department of Pathology and laboratory medicine, Memorial Sloan Kettering Cancer Center, New York, New York, USA

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Diane Reidy-Lagunes Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, New York, USA
Weill Medical College of Cornell University, New York, New York, USA

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Nitya Raj Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, New York, USA
Weill Medical College of Cornell University, New York, New York, USA

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targeted intervention ( Diehl et al. 2008 , Diaz & Bardelli 2014 ). Currently, data in panNENs relating to circulating tumor (ct)DNA detection and quantification from cfDNA, or the use of cfDNA for tumor molecular profiling, are limited. Prior efforts

Article Type:
Research Article
DOI:
https://doi.org/10.1530/ERC-23-0292
Volume/Issue:
Volume 31: Issue 4
Restricted access
H H Milioli Garvan Institute of Medical Research, Darlinghurst, Sydney, New South Wales, Australia
St Vincent’s Clinical School, UNSW Sydney, Sydney, New South Wales, Australia

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S Alexandrou Garvan Institute of Medical Research, Darlinghurst, Sydney, New South Wales, Australia

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E Lim Garvan Institute of Medical Research, Darlinghurst, Sydney, New South Wales, Australia
St Vincent’s Clinical School, UNSW Sydney, Sydney, New South Wales, Australia

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C E Caldon Garvan Institute of Medical Research, Darlinghurst, Sydney, New South Wales, Australia
St Vincent’s Clinical School, UNSW Sydney, Sydney, New South Wales, Australia

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(Cristofanilli et al. 2016) ~8.9 month follow up PFS: 9.5 months vs 4.6 months (HR: 0.46; 95% CI: 0.36–0.59; two-sided P  < 0.0001) ctDNA analysis of PIK3CA mutation at baseline (Turner et al. 2018) OS: 34.9 months vs 28 months (HR: 0

Article Type:
Review Article
DOI:
https://doi.org/10.1530/ERC-19-0501
Volume/Issue:
Volume 27: Issue 5
Free access
Thomas Ho Lai Yau School of Medicine, University of Nottingham, Derby, UK

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Kwok-Leung Cheung School of Medicine, University of Nottingham, Derby, UK

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– • Stomatitis (8% vs 1%) • Anaemia (6% vs <1%) • Hyperglycaemia (4% vs <1%) • Pneumonitis (3% vs 0%) –  Fulvestrant + buparlisib vs fulvestrant + placebo (Baselga et al . 2016) 6.9 vs 5.0 PIK3CA mutant ctDNA (7.0 vs 3.2) 12 vs 8 PIK3CA mutant ctDNA

Article Type:
Research Article
DOI:
https://doi.org/10.1530/ERC-18-0021
Volume/Issue:
Volume 25: Issue 7
Free access