Familial retinoblastoma: fundus screening schedule impact and guideline proposal. A retrospective study

Rothschild, P.R.; Lévy, Dominique; Savignoni, Alexia; Rouic, Livia Lumbroso‐Le; Aerts, Isabelle; Gauthier‐Villars, Marion; Estève, Marc; Bours, D.; Desjardins, Laurence; Doz, François; Lévy-Gabriel, Christine

doi:10.1038/eye.2011.198

Cited by 29 publications

(19 citation statements)

References 18 publications

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“…Bilateral tumors were diagnosed at a younger age in comparison to patients with unilateral lesions. Possible explanations include temporal differences in the initiation or growth rate of tumors arising from germline versus somatic mutations, more effective and earlier screening in hereditary cases, 16 or differences in the onset of signs and symptoms of retinoblastoma in bilateral and unilateral disease. Cases diagnosed prior to 1986 in this cohort exhibited decreased overall survival compared with cases diagnosed in the subsequent temporal strata.…”

Section: Discussionmentioning

confidence: 99%

Epidemiological trends in 1452 cases of retinoblastoma from the Surveillance, Epidemiology, and End Results (SEER) registry

Andreoli

Chau

Shapiro

et al. 2017

Canadian Journal of Ophthalmology

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Purpose To assess retinoblastoma epidemiological trends in the Surveillance, Epidemiology, and End Results (SEER) registry. Methods All cases of retinoblastoma in the SEER database from 1973–2009 were identified. Kaplan-Meier survival analyses were performed for pathological grade, patient age, gender, year of diagnosis, and treatment modality. Cox proportional hazards regression assessed the impact of patient and tumor characteristics on survival. Findings 1,452 cases of retinoblastoma were analyzed. The mean patient age at diagnosis was 1.44 years. The tumor was unilateral in 71.0% or bilateral in 29.0%. The mean follow-up was 129.1 months. Overall survival increased during the study interval. Patients with bilateral tumors were diagnosed at an earlier age (0.46 years) than patients with unilateral disease (1.77 years; P < 0.0001). Bilateral retinoblastoma (90.3% 10-year overall survival) was associated with decreased overall survival than unilateral retinoblastoma (96.1% 10-year overall survival). Bilateral retinoblastoma was also associated with an increased incidence of non-ocular malignancies (7.8%) compared with unilateral retinoblastoma (1.3%; P < 0.0001). Grade 1 tumors were diagnosed at a younger age (0.94 years) than grade 3 (2.24 years) and grade 4 tumors (2.14 years; P < 0.0001). Lower grade and lower stage tumors were independently associated with increased survival. In multivariate Cox proportional hazards analysis, T stage and laterality were the only covariates that correlated with overall survival. Conclusions There appear to be associations between retinoblastoma tumor features such as tumor stage, pathological grade, and laterality with patient characteristics such as age at diagnosis, overall survival, and second malignancies.

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Section: Discussionmentioning

confidence: 99%

Epidemiological trends in 1452 cases of retinoblastoma from the Surveillance, Epidemiology, and End Results (SEER) registry

Andreoli

Chau

Shapiro

et al. 2017

Canadian Journal of Ophthalmology

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“…Examination of the fellow eye for curable tumours using indirect ophthalmoscopy with indentation may be omitted. Follow-up till at least age 7 years, watching for reactivated disease and for siblings, is sporadic 11. This needs to be changed but even with the best will, the prolonged management required is difficult with the limited resources in Africa, and adverse socioeconomic factors are known indicators of poor outcome 12.…”

Section: Discussionmentioning

confidence: 99%

Clinical features and survival among children with retinoblastoma in Uganda

et al. 2014

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“…For specific intraocular screening, institutional practices as well as previously published recommendations from France, the Netherlands, New York, and Canada for individuals with known RB1 mutations were reviewed and considered (43)(44)(45)(46)(47). Overall, the approaches to RB screening were very similar among these different programs.…”

Section: Intraocular Screening For Carriers Of Pathogenic Rb1 Mutationsmentioning

confidence: 99%

Retinoblastoma and Neuroblastoma Predisposition and Surveillance

Kamihara

Bourdeaut

Foulkes

et al. 2017

Clinical Cancer Research

184

137

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Retinoblastoma (RB) is the most common intraocular malignancy in childhood. Approximately 40% of retinoblastomas are hereditary and due to germline mutations in the RB1 gene. Children with hereditary RB are also at risk for developing a midline intracranial tumor, most commonly pineoblastoma. We recommend intensive ocular screening for patients with germline RB1 mutations for retinoblastoma as well as neuroimaging for pineoblastoma surveillance. There is an approximately 20% risk of developing second primary cancers among individuals with hereditary RB, higher among those who received radiotherapy for their primary RB tumors. However, there is not yet a clear consensus on what, if any, screening protocol would be most appropriate and effective. Neuroblastoma (NB), an embryonal tumor of the sympathetic nervous system, accounts for 15% of pediatric cancer deaths. Prior studies suggest that about 2% of patients with NB have an underlying genetic predisposition that may have contributed to the development of NB. Germline mutations in ALK and PHOX2B account for most familial NB cases. However, other cancer predisposition syndromes, such as Li-Fraumeni syndrome, RASopathies, and others, may be associated with an increased risk for NB. No established protocols for NB surveillance currently exist. Here, we describe consensus recommendations on hereditary RB and NB from the AACR Childhood Cancer Predisposition Workshop.

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Familial retinoblastoma: fundus screening schedule impact and guideline proposal. A retrospective study

Abstract: Aims To assess if systematic fundus screening according to an 'intensive' schedule alters ocular outcome and to propose fundus screening schedule guidelines for children related to a retinoblastoma patient.

Cited by 29 publications

References 18 publications

Epidemiological trends in 1452 cases of retinoblastoma from the Surveillance, Epidemiology, and End Results (SEER) registry

Epidemiological trends in 1452 cases of retinoblastoma from the Surveillance, Epidemiology, and End Results (SEER) registry

Clinical features and survival among children with retinoblastoma in Uganda

Retinoblastoma and Neuroblastoma Predisposition and Surveillance

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