title: Immunotherapy and patients treated for cancer with microsatellite instability.
abstract: Microsatellite instability (MSI) is a tumor phenotype linked to somatic or germline (Lynch syndrome) inactivating alterations of DNA mismatch repair genes. A broad spectrum of neoplasms exhibits MSI phenotype, mainly colorectal cancer, endometrial cancer, and gastric cancer. MSI tumors are characterized by dense immune infiltration and high load of tumor neo-antigens. Growing evidence is accumulating on the efficacy of immune checkpoint inhibition for patients treated for MSI solid tumors. We present a comprehensive overview of MSI phenotype, its biological landscape and current diagnostic methods. Then we focus on MSI as a predictive biomarker of response to immune checkpoint inhibition in the context of colorectal cancer and non-colorectal tumors.
authors.affiliation: Department of Medical Oncology, Hôpital Saint-Antoine, AP-HP, 184, rue du Faubourg Saint-Antoine, 75012 Paris, France.
authors.forename: Raphaël
authors.initials: R
authors.lastname: Colle
authors.affiliation: Department of Medical Oncology, Hôpital Saint-Antoine, AP-HP, 184, rue du Faubourg Saint-Antoine, 75012 Paris, France; INSERM, Unité Mixte de Recherche Scientifique 938, Centre de Recherche Saint-Antoine, Equipe Instabilité des Microsatellites et Cancer, Equipe labellisée par la Ligue Nationale contre le Cancer, 184, rue du Faubourg Saint-Antoine, 75012 Paris, France; Sorbonne Universités, UPMC Univ Paris 06, France.
authors.forename: Romain
authors.initials: R
authors.lastname: Cohen
authors.affiliation: Department of Medical Oncology, Hôpital Saint-Antoine, AP-HP, 184, rue du Faubourg Saint-Antoine, 75012 Paris, France; Sorbonne Universités, UPMC Univ Paris 06, France.
authors.forename: Delphine
authors.initials: D
authors.lastname: Cochereau
authors.affiliation: INSERM, Unité Mixte de Recherche Scientifique 938, Centre de Recherche Saint-Antoine, Equipe Instabilité des Microsatellites et Cancer, Equipe labellisée par la Ligue Nationale contre le Cancer, 184, rue du Faubourg Saint-Antoine, 75012 Paris, France; Sorbonne Universités, UPMC Univ Paris 06, France.
authors.forename: Alex
authors.initials: A
authors.lastname: Duval
authors.affiliation: Department of Molecular Biology, Hôpital Saint-Antoine, AP-HP, 184, rue du Faubourg Saint-Antoine, 75012 Paris, France.
authors.forename: Olivier
authors.initials: O
authors.lastname: Lascols
authors.affiliation: Department of Medical Oncology, Hôpital Saint-Antoine, AP-HP, 184, rue du Faubourg Saint-Antoine, 75012 Paris, France.
authors.forename: Daniel
authors.initials: D
authors.lastname: Lopez-Trabada
authors.affiliation: Department of Medical Oncology, Hôpital Saint-Antoine, AP-HP, 184, rue du Faubourg Saint-Antoine, 75012 Paris, France.
authors.forename: Pauline
authors.initials: P
authors.lastname: Afchain
authors.affiliation: Department of Medical Oncology, Hôpital Saint-Antoine, AP-HP, 184, rue du Faubourg Saint-Antoine, 75012 Paris, France.
authors.forename: Isabelle
authors.initials: I
authors.lastname: Trouilloud
authors.affiliation: INSERM, Unité Mixte de Recherche Scientifique 938, Centre de Recherche Saint-Antoine, Equipe Instabilité des Microsatellites et Cancer, Equipe labellisée par la Ligue Nationale contre le Cancer, 184, rue du Faubourg Saint-Antoine, 75012 Paris, France; Sorbonne Universités, UPMC Univ Paris 06, France; Department of Digestive Surgery, Hôpital Saint-Antoine, AP-HP, 184, rue du Faubourg Saint-Antoine, 75012 Paris, France.
authors.forename: Yann
authors.initials: Y
authors.lastname: Parc
authors.affiliation: INSERM, Unité Mixte de Recherche Scientifique 938, Centre de Recherche Saint-Antoine, Equipe Instabilité des Microsatellites et Cancer, Equipe labellisée par la Ligue Nationale contre le Cancer, 184, rue du Faubourg Saint-Antoine, 75012 Paris, France; Sorbonne Universités, UPMC Univ Paris 06, France; Department of Digestive Surgery, Hôpital Saint-Antoine, AP-HP, 184, rue du Faubourg Saint-Antoine, 75012 Paris, France.
authors.forename: Jérémie H
authors.initials: JH
authors.lastname: Lefevre
authors.affiliation: INSERM, Unité Mixte de Recherche Scientifique 938, Centre de Recherche Saint-Antoine, Equipe Instabilité des Microsatellites et Cancer, Equipe labellisée par la Ligue Nationale contre le Cancer, 184, rue du Faubourg Saint-Antoine, 75012 Paris, France; Sorbonne Universités, UPMC Univ Paris 06, France; Department of pathology, hôpital Saint-Antoine, AP-HP, 184, rue du Faubourg Saint-Antoine, 75012 Paris, France.
authors.forename: Jean-François
authors.initials: JF
authors.lastname: Fléjou
authors.affiliation: INSERM, Unité Mixte de Recherche Scientifique 938, Centre de Recherche Saint-Antoine, Equipe Instabilité des Microsatellites et Cancer, Equipe labellisée par la Ligue Nationale contre le Cancer, 184, rue du Faubourg Saint-Antoine, 75012 Paris, France; Sorbonne Universités, UPMC Univ Paris 06, France; Department of pathology, hôpital Saint-Antoine, AP-HP, 184, rue du Faubourg Saint-Antoine, 75012 Paris, France.
authors.forename: Magali
authors.initials: M
authors.lastname: Svrcek
authors.affiliation: Department of Medical Oncology, Hôpital Saint-Antoine, AP-HP, 184, rue du Faubourg Saint-Antoine, 75012 Paris, France; INSERM, Unité Mixte de Recherche Scientifique 938, Centre de Recherche Saint-Antoine, Equipe Instabilité des Microsatellites et Cancer, Equipe labellisée par la Ligue Nationale contre le Cancer, 184, rue du Faubourg Saint-Antoine, 75012 Paris, France; Sorbonne Universités, UPMC Univ Paris 06, France. Electronic address: thierry.andre@aphp.fr.
authors.forename: Thierry
authors.initials: T
authors.lastname: André
mesh_terms: D001932:Brain Neoplasms / Q000235:genetics; D059447:Cell Cycle Checkpoints; D015179:Colorectal Neoplasms / Q000235:genetics / Q000628:therapy; D016889:Endometrial Neoplasms / Q000235:genetics / Q000628:therapy; D005260:Female; D006801:Humans; D007150:Immunohistochemistry; D007167:Immunotherapy; D008297:Male; D053842:Microsatellite Instability; D009369:Neoplasms / Q000235:genetics* / Q000628:therapy*; D009386:Neoplastic Syndromes, Hereditary / Q000235:genetics; D010641:Phenotype; D016133:Polymerase Chain Reaction; D017422:Sequence Analysis, DNA; D013274:Stomach Neoplasms / Q000235:genetics / Q000628:therapy
keywords: Cancer colorectal; Cancer de l’endomètre; Checkpoint immunitaires; Colorectal cancer; Déficience du système de réparation de l’ADN; Endometrial cancer; Immune checkpoint; Lynch syndrome; Mismatch repair deficiency; Nivolumab; Syndrome de Lynch