TY - JOUR
T1 - Retinoblastoma
T2 - From genes to patient care
AU - Bouchoucha, Y.
AU - Matet, A.
AU - Berger, A.
AU - Carcaboso, A. M.
AU - Gerrish, A.
AU - Moll, A.
AU - Jenkinson, H.
AU - Ketteler, P.
AU - Dorsman, J. C.
AU - Chantada, G.
AU - Beck-Popovic, M.
AU - Munier, F.
AU - Aerts, I.
AU - Doz, F.
AU - the European Retinoblastoma Group EuRbG
AU - Golmard, L.
N1 - Funding Information: We are indebted to F. Radvanyi and N. Cassoux for their careful reading of the manuscript and their amendments. Publisher Copyright: © 2022
PY - 2023/1/1
Y1 - 2023/1/1
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=85143669317&partnerID=8YFLogxK
U2 - https://doi.org/10.1016/j.ejmg.2022.104674
DO - https://doi.org/10.1016/j.ejmg.2022.104674
M3 - Article
C2 - 36470558
SN - 1769-7212
VL - 66
JO - European journal of medical genetics
JF - European journal of medical genetics
IS - 1
M1 - 104674
ER -