Combined Immunotherapy Improves Outcome for Replication-Repair-Deficient (RRD) High-Grade Glioma Failing Anti-PD-1 Monotherapy: A Report from the International RRD Consortium.

Autor: Das A; Division of Haematology/Oncology, The Hospital for Sick Children, Toronto, Canada.; Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Canada.; The Arthur and Sonia Labatt Brain Tumour Research Centre, The Hospital for Sick Children, Toronto, Canada.; Department of Paediatric Haematology and Oncology, Tata Medical Center, Kolkata, India.; Department of Paediatrics, University of Toronto, Toronto, Canada., Fernandez NR; Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Canada.; The Arthur and Sonia Labatt Brain Tumour Research Centre, The Hospital for Sick Children, Toronto, Canada., Levine A; Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Canada.; Department of Laboratory Medicine and Pathobiology, Faculty of Medicine, University of Toronto, Toronto, Canada., Bianchi V; Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Canada.; The Arthur and Sonia Labatt Brain Tumour Research Centre, The Hospital for Sick Children, Toronto, Canada., Stengs LK; Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Canada.; The Arthur and Sonia Labatt Brain Tumour Research Centre, The Hospital for Sick Children, Toronto, Canada., Chung J; Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Canada.; The Arthur and Sonia Labatt Brain Tumour Research Centre, The Hospital for Sick Children, Toronto, Canada., Negm L; Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Canada.; The Arthur and Sonia Labatt Brain Tumour Research Centre, The Hospital for Sick Children, Toronto, Canada., Dimayacyac JR; Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Canada.; The Arthur and Sonia Labatt Brain Tumour Research Centre, The Hospital for Sick Children, Toronto, Canada., Chang Y; Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Canada.; The Arthur and Sonia Labatt Brain Tumour Research Centre, The Hospital for Sick Children, Toronto, Canada., Nobre L; Division of Haematology/Oncology, The Hospital for Sick Children, Toronto, Canada.; Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Canada.; The Arthur and Sonia Labatt Brain Tumour Research Centre, The Hospital for Sick Children, Toronto, Canada., Ercan AB; Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Canada.; The Arthur and Sonia Labatt Brain Tumour Research Centre, The Hospital for Sick Children, Toronto, Canada.; Institute of Medical Science, Faculty of Medicine, University of Toronto, Toronto, Canada., Sanchez-Ramirez S; Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Canada.; The Arthur and Sonia Labatt Brain Tumour Research Centre, The Hospital for Sick Children, Toronto, Canada., Sudhaman S; Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Canada.; The Arthur and Sonia Labatt Brain Tumour Research Centre, The Hospital for Sick Children, Toronto, Canada., Edwards M; Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Canada.; The Arthur and Sonia Labatt Brain Tumour Research Centre, The Hospital for Sick Children, Toronto, Canada., Larouche V; Pediatric Haematology/Oncology Department, CHU de Québec-Université Laval, Quebec City, Canada., Samuel D; Department of Paediatric Oncology, Valley Children's Hospital, Madera, California., Van Damme A; Department of Paediatric Haematology and Oncology, Saint Luc University Hospital, Université Catholique de Louvain, Brussels, Belgium., Gass D; Atrium Health/Levine Children's Hospital, Charlotte, North Carolina., Ziegler DS; Kids Cancer Centre, Sydney Children's Hospital, Randwick, Australia.; School of Clinical Medicine, UNSW Sydney, Sydney, Australia., Bielack SS; Department of Pediatric Oncology, Hematology and Immunology, Center for Childhood, Adolescent, and Women's Medicine, Stuttgart Cancer Center, Klinikum Stuttgart, Stuttgart, Germany., Koschmann C; Pediatric Hematology/Oncology, C.S. Mott Children's Hospital, University of Michigan, Ann Arbor, Michigan., Zelcer S; Department of Pediatrics, London Health Sciences Centre, London, Canada., Yalon-Oren M; Department of Paediatric Haematology-Oncology, Sheba Medical Centre, Ramat Gan, Israel., Campino GA; Department of Paediatric Haematology-Oncology, Sheba Medical Centre, Ramat Gan, Israel., Sarosiek T; Lux Med Onkologia, Warsaw, Poland., Nichols KE; Department of Oncology, St Jude Children's Research Hospital, Memphis, Tennessee., Loret De Mola R; Oregon Health and Science University, Portland, Oregon., Bielamowicz K; Department of Pediatrics, Section of Pediatric Hematology/Oncology, The University of Arkansas for Medical Sciences/Arkansas Children's Hospital, Little Rock, Arkansas., Sabel M; Department of Paediatrics, Institute of Clinical Sciences, Sahlgrenska Academy, University of Gothenburg & Queen Silvia Children's Hospital, Sahlgrenska University Hospital, Gothenburg, Sweden., Frojd CA; Department of Oncology, Sahlgrenska University Hospital, Gothenburg, Sweden., Wood MD; Neuropathology, Oregon Health & Science University Department of Pathology, Portland, Oregon., Glover JM; Department of Pediatric Hematology/Oncology, Randall Children's Hospital, Portland, Oregon., Lee YY; Department of Neurosurgery, Neurological Institute, Taipei Veterans General Hospital, Taipei, Taiwan., Vanan M; Pediatric Hematology-Oncology, CancerCare Manitoba, Winnipeg, Canada.; CancerCare Manitoba Research Institute, Pediatrics and Child Health, University of Manitoba, Winnipeg, Canada., Adamski JK; Neuro-oncology Division, Birmingham Children's Hospital, Birmingham, United Kingdom., Perreault S; Neurosciences Department, Child Neuro-logy Division, CHU Sainte-Justine, Montreal, Canada., Chamdine O; Pediatric Hematology Oncology, King Fahad Specialist Hospital Dammam, Eastern Province, Saudi Arabia., Hjort MA; Department of Paediatric Haematology and Oncology, St. Olav's University Hospital, Trondheim, Norway., Zapotocky M; Department of Paediatric Haematology and Oncology, Second Faculty of Medicine, University Hospital Motol, Charles University, Prague, Czech Republic., Carceller F; Paediatric and Adolescent Neuro-Oncology and Drug Development, The Royal Marsden NHS Foundation Trust & Division of Clinical Studies, The Institute of Cancer Research, London, United Kingdom., Wright E; Division of Neuro-Oncology, Akron Children's Hospital, Akron, Ohio., Fedorakova I; Clinic of Pediatric Oncology and Hematology, University Children's Hospital, Banská Bystrica, Slovakia., Lossos A; Department of Oncology, Leslie and Michael Gaffin Centre for Neuro-Oncology, Hadassah-Hebrew University Medical Centre, Jerusalem, Israel., Tanaka R; Division of Hematology/Oncology/Blood and Marrow Transplantation, Department of Pediatrics, Medical College of Wisconsin, Milwaukee, Wisconsin., Osborn M; Women's and Children's Hospital, North Adelaide, Australia., Blumenthal DT; Neuro-Oncology Service, Tel-Aviv Medical Center, Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel., Aronson M; Zane Cohen Centre for Digestive Diseases, Mount Sinai Hospital, Toronto, Canada., Bartels U; Division of Haematology/Oncology, The Hospital for Sick Children, Toronto, Canada.; Department of Paediatrics, University of Toronto, Toronto, Canada., Huang A; Division of Haematology/Oncology, The Hospital for Sick Children, Toronto, Canada.; The Arthur and Sonia Labatt Brain Tumour Research Centre, The Hospital for Sick Children, Toronto, Canada., Ramaswamy V; Division of Haematology/Oncology, The Hospital for Sick Children, Toronto, Canada.; The Arthur and Sonia Labatt Brain Tumour Research Centre, The Hospital for Sick Children, Toronto, Canada., Malkin D; Division of Haematology/Oncology, The Hospital for Sick Children, Toronto, Canada.; Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Canada.; Department of Paediatrics, University of Toronto, Toronto, Canada.; Department of Medical Biophysics, University of Toronto, Toronto, Canada., Shlien A; Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Canada.; Department of Laboratory Medicine and Pathobiology, Faculty of Medicine, University of Toronto, Toronto, Canada., Villani A; Division of Haematology/Oncology, The Hospital for Sick Children, Toronto, Canada.; Department of Paediatrics, University of Toronto, Toronto, Canada., Dirks PB; The Arthur and Sonia Labatt Brain Tumour Research Centre, The Hospital for Sick Children, Toronto, Canada.; Division of Neurosurgery, The Hospital for Sick Children, Toronto, Canada.; Developmental and Stem Cell Biology Program, The Hospital for Sick Children, Toronto, Canada., Pugh TJ; Ontario Institute for Cancer Research, Princess Margaret Cancer Centre, Toronto, Canada., Getz G; Broad Institute of Harvard and MIT, Cambridge, Massachusetts., Maruvka YE; Technion-Israel Institute of Technology, Tel-Aviv, Israel., Tsang DS; Radiation Medicine Program, Princess Margaret Cancer Centre, University Health Network, Toronto, Canada., Ertl-Wagner B; Department of Diagnostic Imaging, The Hospital for Sick Children, Toronto, Canada., Hawkins C; The Arthur and Sonia Labatt Brain Tumour Research Centre, The Hospital for Sick Children, Toronto, Canada.; Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Canada.; Department of Laboratory Medicine and Pathobiology, Faculty of Medicine, University of Toronto, Toronto, Canada., Bouffet E; Division of Haematology/Oncology, The Hospital for Sick Children, Toronto, Canada., Morgenstern DA; Division of Haematology/Oncology, The Hospital for Sick Children, Toronto, Canada.; Department of Paediatrics, University of Toronto, Toronto, Canada., Tabori U; Division of Haematology/Oncology, The Hospital for Sick Children, Toronto, Canada.; Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Canada.; The Arthur and Sonia Labatt Brain Tumour Research Centre, The Hospital for Sick Children, Toronto, Canada.; Department of Medical Biophysics, University of Toronto, Toronto, Canada.

Publikováno v: Cancer discovery [Cancer Discov] 2024 Feb 08; Vol. 14 (2), pp. 258-273.

ERN GENTURIS guidelines on constitutional mismatch repair deficiency diagnosis, genetic counselling, surveillance, quality of life, and clinical management.

Autor: Colas C; Institut Curie, Paris, France., Guerrini-Rousseau L; Gustave Roussy Cancer Center, Villejuif, France., Suerink M; Department of Clinical Genetics, Leiden University Medical Centre, Leiden, the Netherlands., Gallon R; Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, UK., Kratz CP; Pediatric Hematology and Oncology, Hannover Medical School, Hannover, Germany., Ayuso É; Patient representative, Bordeaux, France., Brugières L; Gustave Roussy Cancer Center, Villejuif, France., Wimmer K; Institute of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria. Katharina.wimmer@i-med.ac.at.

Publikováno v: European journal of human genetics : EJHG [Eur J Hum Genet] 2024 Dec; Vol. 32 (12), pp. 1526-1541. Date of Electronic Publication: 2024 Oct 17.