Retinoblastoma: From genes to patient care.

Y Bouchoucha, A Matet, A Berger, A M Carcaboso, A Gerrish, A Moll, H Jenkinson, P Ketteler, J C Dorsman, G Chantada, M Beck-Popovic, F Munier, I Aerts, F Doz, L Golmard

Journal: European journal of medical genetics 2022;66(1):104674

PMID: 36470558

Full Text on Elsevier Science View on PubMed

Abstract

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.

Address: 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. Electronic address: [email protected].; Université Paris-Cité, Paris, France; Department of Ophthalmology, Institut Curie, Paris, France.; Department of Ophthalmology, University of Lausanne, Jules-Gonin Eye Hospital, Fondation Asile des Aveugles, Lausanne, Switzerland.; Institut de Recerca Sant Joan de Deu, Barcelona, Spain; SJD Pediatric Cancer Center Barcelona, Hospital Sant Joan de Deu, Barcelona, 08950, Spain.; West Midlands Regional Genetics Service, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, B15 2TG, UK.; Department of Ophthalmology, VU University Medical Center, Amsterdam, the Netherlands.; Department of Paediatric Oncology, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, B4 6NH, UK.; Department of Paediatrics III, University Hospital Essen, Essen, Germany.; Department of Human Genetics, Amsterdam UMC location VUmc, Amsterdam, the Netherlands.; Department of Pediatrics, Hematology-Oncology Unit, University Hospital, Lausanne, Switzerland.; Unit of Pediatric Ocular Oncology, Jules-Gonin Eye Hospital, University of Lausanne, Lausanne, Switzerland.; SIREDO Oncology Center of Care, Innovation and Research for Children, Adolescent and Young Adults with Cancer, Institut Curie, Paris, France.; 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.; Department of Genetics, PSL Research University, Institut Curie, Paris, France. Electronic address: [email protected].

DOI: 10.1016/j.ejmg.2022.104674

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MeSH Terms: Child, Humans, Retinoblastoma, Genes, Retinoblastoma, Mutation, Retinal Neoplasms, Patient Care, DNA Mutational Analysis