Retinoblastoma survivors with a germline RB1 mutation are at elevated risk for secondary (nonocular) malignancy, but their risk for low-grade glioma (LGG) is unknown. We performed a retrospective review of the Memorial Sloan Kettering Cancer Center and the NCI databases that revealed that three of the 837 5-year survivors of hereditary retinoblastoma were diagnosed with an LGG and a fourth patient (but unilateral and without a germline mutation) was identified at another center. Retinoblastoma survivors may be at increased risk for LGG.
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http://dx.doi.org/10.1002/pbc.28770 | DOI Listing |
Rare Tumors
December 2024
Department of Ophthalmology and Visual Sciences, Washington University School of Medicine St Louis, St Louis, MO, USA.
Pediatric retinoblastoma survivors exhibit visual deficits. How these visual deficits impact reading skills is unknown. The purpose of this study is to assess reading level, reading acuity, and reading speed among retinoblastoma survivors.
View Article and Find Full Text PDFNat Rev Cancer
December 2024
Department of Paediatric Haematology and Oncology, Hannover Medical School, Hannover, Germany.
Although cancer is rare in children and adolescents, it remains a leading cause of death within this age range, and genetic predisposition is the main known risk factor. Since the discovery of retinoblastoma-predisposing RB1 pathogenic germline variants in 1985, several additional high-penetrance cancer predisposition genes (CPGs) have been identified. Although few clinically recognizable genetic conditions display moderate cancer phenotypes, burden testing has revealed low-to-moderate penetrance CPGs.
View Article and Find Full Text PDFInt J Mol Sci
November 2024
Human Genetics PhD Program, Department of Molecular Biology and Genomics, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Guadalajara 44340, Mexico.
Variants in the gene are associated with retinoblastoma (RB) development, and their presence in germline cells considerably increases the risk of subsequent malignant neoplasms (SMNs) in RB survivors. We report a female patient with bilateral RB who developed two SMNs in less than ten years, with a de novo pathogenic nonsense variant in [NM_000321.3:c.
View Article and Find Full Text PDFClin Ophthalmol
October 2024
Ocular Oncology Service, Department of Ophthalmology, University of Cincinnati College of Medicine, Cincinnati, OH, USA.
Introduction: A retrospective review of patients treated for retinoblastoma who developed a non-pineoblastoma second primary malignant neoplasm (SPMN) was performed.
Methods: The demographics, clinical features and treatments for retinoblastoma, pathologic types of non-pineoblastoma second primary malignant neoplasm (SPMN), intervals between the retinoblastoma diagnosis and treatment and diagnosis of non-pineoblastoma SPMN, treatment provided for the SPMN, and the survival outcomes of the patients were evaluated.
Results: Of 550 patients treated initially for retinoblastoma, this series used the 15 (2.
Indian J Ophthalmol
October 2024
Ocular Oncology and Oculoplasty, Centre for Sight Eye Hospital, Hyderabad, Telangana, India.
Purpose: With the increased survival of retinoblastoma (RB) patients, it is important to evaluate the quality of life (QoL) of RB survivors as well as caregivers to provide comprehensive care to the children and caregivers. This study aims to assess the QoL of survivors of RB, as perceived by parents and the self-report by patients, through a pediatric QoL (PEDs-QoL) questionnaire.
Methods: The study cohort included 86 RB survivors, 86 age-matched controls, and their primary carers.
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