ArticleSaudi journal of ophthalmology : official journal of the Saudi Ophthalmological Society2010
RB1 gene mutations in retinoblastoma and its clinical correlation.
Article in Saudi journal of ophthalmology : official journal of the Saudi Ophthalmological Society, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed.
- One hotspotFrontiers in oncology · 2026Article
- Tumor heterogeneity in retinoblastoma: a literature review.Cancer metastasis reviews · 2025Review
- Retinoblastoma: An update on genetic origin, classification, conventional to next-generation treatment strategies.Heliyon · 2024Review
- Presentation pattern and survival rate of retinoblastoma following chemotherapy: a prospective study.BMC pediatrics · 2023Article
- Expression of Ki67 as detected by MIB-1 and its association with histopathological high-risk factors among patients with retinoblastoma tumour: a cross-sectional study.BMJ open ophthalmology · 2022Article
- Clinical evaluation of RB1 genetic testing reveals novel mutations in Vietnamese patients with retinoblastoma.Molecular and clinical oncology · 2021Article
- Functional Common and RareCancer prevention research (Philadelphia, Pa.) · 2021Article
- Genomic abnormalities in invasive endocervical adenocarcinoma correlate with pattern of invasion: biologic and clinical implications.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2017Article
- Next-generation sequencing-based method shows increased mutation detection sensitivity in an Indian retinoblastoma cohort.Molecular vision · 2016Article
- Novel mutations in the RB1 gene from Chinese families with a history of retinoblastoma.Tumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine · 2015Article
- Screening of RB1 gene mutations in Chinese patients with retinoblastoma and preliminary exploration of genotype-phenotype correlations.Molecular vision · 2014Article
- Genetics of primary intraocular tumors.Ocular immunology and inflammation · 2012Review
- Orbital retinoblastoma: Present status and future challenges - A review.Saudi journal of ophthalmology : official journal of the Saudi Ophthalmological Society · 2011Article
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6 authors.
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Abstract
purposeTo find correlation between the type of mutations observed and the severity of the disease using multiple techniques like polymerase chain reactions (PCR), quantitative multiplex PCR, sequencing and RNA analysis.
methodsProspective, observational study. Patients who had been screened for mutations in the RB1 gene were included in the study. Patient details including demographic data; age and sex, laterality, international classification of intraocular retinoblastoma (ICIOR) staging, modality of management, histopathology high risk factors if the eyes were enucleated and metastasis rate were assessed.
resultsSeventy four patients were studied. Fifty three patients had bilateral and 21 unilateral disease. Complete genetic data was analyzed for 74 patients and complete clinical correlation was established for all the 49 patients with mutations. Of the total mutations identified, 11/49 (22.4%) of patients had large deletions, 12/49 (24.5%) had small deletions or insertions, 14/49 (28.6%) had nonsense mutations, 7/49 (14.3%) had splice mutations and 5/49 (10.2%) of patients had missense mutations. Four cases were familial. Group E ICIOR stage at presentation was noted in 40% of patients with large deletions, 33% with small deletions whereas 38.5% with splice mutations and 44.4% of patients with missense mutations presented with Group B ICIOR. Twenty five percentages of eyes with large deletions had high risk features on histopathology and one patient among these developed metastasis.
conclusionCurrent laboratory testing of RB1 mutations may be feasible in determining the severity of the disease and patient counseling. The study provides a starting point for looking at correlations.
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