Correlation between RB1germline mutations and second primary malignancies in hereditary retinoblastoma patients treated with external beam radiotherapy

European Journal of Medical Genetics
Amélie ChaussadeClaude Houdayer

Abstract

Retinoblastoma (Rb) results from biallelic inactivation of the RB1 gene. Hereditary Rb patients i. e germline carriers of a RB1 mutation also have a risk of developing subsequent malignant neoplasms (SMN) such as osteosarcomas. This SMN risk is maximized by external beam radiotherapy treatments (EBRT), which is why these treatments are now avoided. Nevertheless, EBRT is still a matter of great concern, as EBRT-treated patients are in their adulthood and SMNs remain the major cause of death for patients. To decipher the relationship between RB1 genotype and SMN development in EBRT treated patients, we conducted a retrospective study in a cohort of 160 irradiated hereditary Rbs with fully resolved RB1 mutational status. Median follow-up was 22 years [1-51] and median age of patients was 27 years old [7-53]. Among these 160 Rb patients, 120 did not develop any SMN (75%) and 40 developed SMNs (25%). The age at which EBRT is given (i.e. before or after the age of 12 months) was not correlated to SMN development (p = 0.6). We didn't find any difference in RB1 mutation type between patients with or without SMN, neither could we detect any linkage between mutation type and SMN location, SMN type and age at diagnosis. Interestingly, amo...Continue Reading

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Citations

Jun 18, 2019·Molecular Genetics & Genomic Medicine·Demet AkdenizHulya Yazici
Oct 18, 2019·Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology·Ruth A KleinermanLindsay M Morton
Aug 2, 2020·International Ophthalmology·Swathi Kaliki, Vijay Anand Reddy Palkonda
Dec 8, 2020·Journal français d'ophtalmologie·A-K LamiotP Gain
Jan 22, 2021·British Journal of Cancer·Sara J SchonfeldLindsay M Morton
Jan 24, 2021·The Lancet Child & Adolescent Health·Christian P KratzFranck Bourdeaut
Apr 4, 2021·Cancers·Armida W M FabiusAnnette C Moll
Jul 24, 2021·European Journal of Cancer : Official Journal for European Organization for Research and Treatment of Cancer (EORTC) [and] European Association for Cancer Research (EACR)·Irene JiménezGudrun Schleiermacher
Sep 21, 2020·Bulletin du cancer·Charlotte CollignonDaniel Orbach

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