Retinoblastoma: From genes to patient care
Por:
Bouchoucha, Y, Matet, A, Berger, A, Carcaboso AM, Gerrish, A, Moll, A, Jenkinson, H, Ketteler, P, Dorsmank, JC, Chantada G, Beck-Popovic, M, Munier, F, Aerts, I, Doz, F and Golmard, L
Publicada:
1 ene 2023
Ahead of Print:
1 dic 2022
Resumen:
Retinoblastoma is the most common paediatric neoplasm of the retina, and one of the earliest model of cancer genetics since the identification of the master tumour suppressor gene RB1. Tumorigenesis has been shown to be driven by pathogenic variants of the RB1 locus, but also genomic and epigenomic alterations outside the locus. The increasing knowledge on this "mutational landscape " is used in current practice for precise genetic testing and counselling. Novel methods provide access to pre-therapeutic tumour DNA, by isolating cell-free DNA from aqueous humour or plasma. This is expected to facilitate assessment of the constitutional status of RB1, to provide an early risk stratification using molecular prognostic markers, to follow the response to the treatment in longitudinal studies, and to predict the response to targeted therapies. The aim of this review is to show how molecular genetics of retinoblastoma drives diagnosis, treatment, monitoring of the disease and surveillance of the patients and relatives. We first recap the current knowledge on retinoblastoma genetics and its use in every-day practice. We then focus on retinoblastoma subgrouping at the era of molecular biology, and the expected input of cell-free DNA in the field.
Filiaciones:
Bouchoucha, Y:
SIREDO Oncology Center of Care, Innovation and Research for Children, Adolescent and Young Adults with Cancer, Institut Curie, Paris, France
Université Paris-Cité, Paris, France
SIREDO Oncol Ctr Care Innovat & Res Children, Inst Curie, Adolescent & Young Adults Canc, Paris, France
Univ Paris Cite, Paris, France
Matet, A:
Université Paris-Cité, Paris, France
Department of Ophthalmology, Institut Curie, Paris, France
Univ Paris Cite, Paris, France
Inst Curie, Dept Ophthalmol, Paris, France
Berger, A:
Department of Ophthalmology, University of Lausanne, Jules-Gonin Eye Hospital, Fondation Asile des Aveugles, Lausanne, Switzerland
Univ Lausanne, Jules Gonin Eye Hosp, Dept Ophthalmol, Fdn Asile Aveugles, Lausanne, Switzerland
Carcaboso AM:
Institut de Recerca Sant Joan de Déu, Barcelona, Spain
SJD Pediatric Cancer Center Barcelona, Hospital Sant Joan de Deu, Barcelona, 08950, Spain
Inst Recerca Sant Joan Deu, Barcelona, Spain
Hosp San Juan Dios, SJD Pediat Canc Ctr Barcelona, Barcelona 08950, Spain
Gerrish, A:
West Midlands Regional Genetics Service, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, B15 2TG, UK
Birmingham Womens & Childrens NHS Fdn Trust, West Midlands Reg Genet Serv, Birmingham B15 2TG, England
Moll, A:
Department of Ophthalmology, VU University Medical Center, Amsterdam, the Netherlands
Vrije Univ Amsterdam Med Ctr, Dept Ophthalmol, Amsterdam, Netherlands
Jenkinson, H:
Department of Paediatric Oncology, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, B4 6NH, UK
Birmingham Womens & Childrens NHS Fdn Trust, Dept Paediat Oncol, Birmingham B4 6NH, England
Ketteler, P:
Department of Paediatrics III, University Hospital Essen, Essen, Germany
Univ Hosp Essen, Dept Paediat 3, Essen, Germany
Dorsmank, JC:
Department of Human Genetics, Amsterdam UMC location VUmc, Amsterdam, the Netherlands
Amsterdam UMC locat VUmc, Dept Human Genet, Amsterdam, Netherlands
Chantada G:
Institut de Recerca Sant Joan de Déu, Barcelona, Spain
SJD Pediatric Cancer Center Barcelona, Hospital Sant Joan de Deu, Barcelona, 08950, Spain
Inst Recerca Sant Joan Deu, Barcelona, Spain
Hosp San Juan Dios, SJD Pediat Canc Ctr Barcelona, Barcelona 08950, Spain
Beck-Popovic, M:
Department of Pediatrics, Hematology-Oncology Unit, University Hospital, Lausanne, Switzerland
Univ Hosp, Dept Pediat, Hematol Oncol Unit, Lausanne, Switzerland
Munier, F:
Unit of Pediatric Ocular Oncology, Jules-Gonin Eye Hospital, University of Lausanne, Lausanne, Switzerland
Univ Lausanne, Jules Gonin Eye Hosp, Unit Pediat Ocular Oncol, Lausanne, Switzerland
Aerts, I:
SIREDO Oncology Center of Care, Innovation and Research for Children, Adolescent and Young Adults with Cancer, Institut Curie, Paris, France
Doz, F:
SIREDO Oncology Center of Care, Innovation and Research for Children, Adolescent and Young Adults with Cancer, Institut Curie, Paris, France
Université Paris-Cité, Paris, France
SIREDO Oncol Ctr Care Innovat & Res Children, Inst Curie, Adolescent & Young Adults Canc, Paris, France
Univ Paris Cite, Paris, France
Golmard, L:
Department of Genetics, PSL Research University, Institut Curie, Paris, France
PSL Res Univ, Inst Curie, Dept Genet, Paris, France
SIREDO Oncology Center of Care, Innovation and Research for Children, Adolescent and Young Adults with Cancer, Institut Curie, Paris, France; Universite Paris-Cite, Paris, France.
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