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Revue Medicale Suisse Feb 2006
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Harefuah Aug 1994
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Ophthalmologica. Journal International... 19751. The increase in frequency of retinoblastoma reported during the last decades [FRANCOIS, 1968] is probably not due to an increase of the mutation rate but to a lowered... (Review)
Review
1. The increase in frequency of retinoblastoma reported during the last decades [FRANCOIS, 1968] is probably not due to an increase of the mutation rate but to a lowered mortality rate and also to improvement in methods of investigation and diagnosis. (2) In 95% of all affected families retinoblastoma occurs just once, the familial occurrence being +/- 5%. (3) The hereditary retinoblastomas (whether sporadic or familial) represent about 40% of all cases. (4) A new dominant mutation is judged to be responsible for 100% of the bilateral sporadic cases and for 10-20% of the unilateral sporadic cases. (5) Genetic susceptibility to cancer can be chromosomal, mendelian dominant, mendelian recessive, or polygenic. Retinoblastoma belongs to the first as well as to the second category. The fact that the chromosomal aberration of the D deletion syndrome antedates the appearance of the tumour suggests that chromosomal change may be the primary cause of the tumour formation. (6) Although several problems remain an unsolved question, attention must be given to KNUDSON'S working hypothesis [KNUDSON et al., 1973], according to which all childhood tumours fit at least a two-mutational aetiology, involving a two-step process. It remains an open question whether both events occur at different genetic loci or at alleles of the same locus. (7) The main difficulty in genetic counseling is the lack of means for identifying which sporadic retinoblastoma cases are due to new germinal mutations.
Topics: Adult; Age Factors; Chromosome Aberrations; Female; Functional Laterality; Genetic Counseling; Humans; Male; Mutation; Retinoblastoma
PubMed: 1097980
DOI: 10.1159/000307248 -
Clinica Chimica Acta; International... Nov 2011Retinoblastoma is a pediatric eye tumor that serves as a paradigm for understanding the genetic basis of cancer. Mutations and/or epigenetic alterations inactivating... (Review)
Review
Retinoblastoma is a pediatric eye tumor that serves as a paradigm for understanding the genetic basis of cancer. Mutations and/or epigenetic alterations inactivating both alleles of the retinoblastoma gene (RB) are associated with retinoblastoma. There are many other genes which express differentially in the preneoplastic retinal cells after RB loss, as cells progress to form tumors. These genetic changes and the pathways involved can provide valuable insight into the development and progression of this cancer. Conventional molecular and genetic methods for studying cancer are limited to the analysis of one locus at a time. A cluster of genes that are regulated together can be identified by DNA microarray, and the functional relationships can uncover new aspects of cancer biology. Meta analysis is an important tool for the identification and validation of differentially expressed genes to increase power in clinical and biological studies across different sets of data. Recently, meta analysis approaches have been applied to large collections of microarray datasets to investigate molecular commonalities of multiple cancer types not only to find the common molecular pathways in tumor development but also to compare the individual datasets to other cancer datasets to identify new sets of genes. The outcome of these analyses might accelerate the application of basic research findings into daily clinical practice through translational research and may have an impact on foreseeing the clinical outcome, predicting tumor response to specific therapy, identification of new prognostic biomarkers, discovering targets for the development of novel therapies and providing further insights. These and related research efforts reveal novel data that enhance our understanding of the biology of retinoblastoma. These observations may facilitate new therapeutic approaches to further decrease the morbidity and mortality associated with retinoblastoma and other more common forms of cancer.
Topics: Diagnosis, Differential; Gene Expression Regulation, Neoplastic; Humans; Oligonucleotide Array Sequence Analysis; Real-Time Polymerase Chain Reaction; Retinoblastoma; Tissue Array Analysis
PubMed: 20951689
DOI: 10.1016/j.cca.2010.10.009 -
Neurosurgical Review Mar 2019We conducted a systematic review of 72 studies to characterize trilateral retinoblastomas. Kaplan-Meier analysis was used to estimate survival, and statistical...
We conducted a systematic review of 72 studies to characterize trilateral retinoblastomas. Kaplan-Meier analysis was used to estimate survival, and statistical significance was assessed by using a log-rank test. We analyzed 211 cases of trilateral retinoblastomas. The average age of onset of retinoblastoma was 0.79 ± 1.38 years, and the average latency period between the onset of retinoblastomas and trilateral retinoblastomas was 1.49 ± 1.76 years. The brain tumors were found before the retinoblastoma diagnosis in 6 cases (3.1%), concurrently in 61 cases (32.1%), and after the retinoblastoma diagnosis in 123 cases (64.7%). Pineal tumors were found in 155 cases (73.4%) and sellar tumors in 46 cases (21.8%). The overall median survival was 10.3 months (95% CI, 8.5-13) and the 5-year survival rate was 15.7%. Central nervous system symptoms were variable and associated with shorter survival in univariate and multivariate analyses. The survival time in patients who received high-dose chemotherapy with stem cell transplant was significantly longer (p = 0.0067) than that of with or without conventional chemotherapy. Twelve long-term survivors were reported, and of these, six patients were treated with high-dose chemotherapy with stem cell transplant and six patients were treated with conventional chemotherapy. It is important that survivors continue to undergo regular medical surveillance in order to detect trilateral retinoblastoma at a potentially curative stage. Trilateral retinoblastoma patients with an irradiation history had shorter survival than those without irradiation history for retinoblastoma. High-dose chemotherapy should be considered as a potential treatment option for trilateral retinoblastomas.
Topics: Child, Preschool; Female; Humans; Infant; Infant, Newborn; Kaplan-Meier Estimate; Male; Retinal Neoplasms; Retinoblastoma
PubMed: 28815312
DOI: 10.1007/s10143-017-0890-4 -
The Medical Journal of Malaysia Jun 2011Trilateral retinoblastoma is the association of hereditary bilateral or unilateral retinoblastoma with a pineal neuroblastic tumour. We describe two cases of trilateral...
Trilateral retinoblastoma is the association of hereditary bilateral or unilateral retinoblastoma with a pineal neuroblastic tumour. We describe two cases of trilateral retinoblastoma from a total of 141 cases of retinoblastoma seen over an 8.5 year period. Both had a fatal outcome, with survival times of only 4 and 8 months respectively.
Topics: Child, Preschool; Fatal Outcome; Female; Humans; Infant; Male; Retinal Neoplasms; Retinoblastoma
PubMed: 22106703
DOI: No ID Found -
Seminars in Oncology Nursing Nov 1992Retinoblastoma, a malignant intraocular tumor of infancy and childhood, originates from primitive embryonal retinal cells. The cause of retinoblastoma is the loss or... (Review)
Review
Retinoblastoma, a malignant intraocular tumor of infancy and childhood, originates from primitive embryonal retinal cells. The cause of retinoblastoma is the loss or deletion of genetic information from the long arm of chromosome 13. Retinoblastoma has a hereditary form characterized by bilateral and multifocal tumors, and a nonheritable form that presents with a single tumor.
Topics: Child, Preschool; Eye Neoplasms; Female; Genetic Counseling; Humans; Infant; Male; Neoplasm Staging; Retinoblastoma
PubMed: 1480855
DOI: 10.1016/0749-2081(92)90035-2 -
Scientific Reports Mar 2022The purpose of this study is to characterize demographically and genetically the Portuguese population with retinoblastoma; to report the clinical stage at presentation... (Observational Study)
Observational Study
The purpose of this study is to characterize demographically and genetically the Portuguese population with retinoblastoma; to report the clinical stage at presentation and its impact on survival and ocular preservation rate and, finally, to assess the incidence of retinoblastoma in Portugal. Retrospective observational study including children consecutively diagnosed with retinoblastoma at the Portuguese National Referral Center of Intraocular Tumors, between October 2015 and October 2020. Twenty-eight children were diagnosed with retinoblastoma at our center, 15 hereditary from which 12 presented with bilateral retinoblastoma and 3 were unilateral. The overall mean age at diagnosis was 13.6 ± 11.1 months with hereditary retinoblastomas diagnosed slightly earlier at 9.6 ± 6.3 months. A familial history of retinoblastoma was found in only 4 (14.3%) of the cases. A pathogenic mutation in the RB1 gene was found in 13 (46.4%) of the children. The most frequent sign at referral was leukocoria in 71.4% of patients. Considering the ICRB classification of the tumors, 84.6% of non-hereditable hereditary retinoblastomas were referred to our center in advanced stages. In the group of hereditable retinoblastomas 86.7% presented with one of the eyes with advanced intraocular retinoblastoma. Fourteen children had one eye enucleated due to retinoblastoma. No deaths were registered during the study period. Considering the incidence analysis, we registered a year-of-birth controlled incidence analysis of 4.04 per 100.000 living births (IC 95% 1.59-6.49). This is the first characterization of the Portuguese Population diagnosed with Retinoblastoma in the National Reference Center.
Topics: Child, Preschool; Genes, Retinoblastoma; Humans; Infant; Portugal; Retinal Neoplasms; Retinoblastoma; Retrospective Studies
PubMed: 35288594
DOI: 10.1038/s41598-022-08326-6 -
Current Opinion in Ophthalmology Jun 2006The current classification and management strategies for retinoblastoma are discussed. (Review)
Review
PURPOSE OF REVIEW
The current classification and management strategies for retinoblastoma are discussed.
RECENT FINDINGS
The International Classification of Retinoblastoma is a new classification system for retinoblastoma and is based on tumor size, location, and associated seeding: group A = retinoblastoma up to 3 mm in size; group B = retinoblastoma more than 3 mm in size, macular location, or minor subretinal fluid; group C = retinoblastoma with localized seeds; group D = retinoblastoma with diffuse seeds; and group E = massive retinoblastoma necessitating enucleation. This classification was designed to simplify grouping and to assist in predicting treatment outcomes. Chemoreduction is an important therapy for bilateral retinoblastoma and some cases of unilateral retinoblastoma. This International Classification of Retinoblastoma can reliably predict chemoreduction outcome, as success was achieved in 100% of group A, 93% of group B, 90% of group C, and 47% of group D cases. Group E is typically managed with enucleation.
SUMMARY
The new classification of retinoblastoma allows better judgement for success with chemoreduction for retinoblastoma.
Topics: Antineoplastic Agents; Brachytherapy; Cryotherapy; Eye Enucleation; Humans; Laser Therapy; Retinal Neoplasms; Retinoblastoma
PubMed: 16794434
DOI: 10.1097/01.icu.0000193079.55240.18 -
International Journal of Clinical... Feb 2004Current management modalities for intraocular retinoblastoma, their indications, and ocular prognosis are reviewed. Enucleation, external beam radiotherapy, plaque... (Review)
Review
Current management modalities for intraocular retinoblastoma, their indications, and ocular prognosis are reviewed. Enucleation, external beam radiotherapy, plaque radiotherapy, laser photocoagulation and hyperthermia, and cryotherapy are the modalities generally employed. Recently, neoadjuvant chemotherapy has been introduced for retinoblastoma to avoid external beam radiotherapy. New treatment modalities such as subconjunctival injection, selective ophthalmic artery injection, and vitreous injection are being investigated and have achieved favorable results. Although many modalities are employed, almost half of retinoblastoma eyes have to be enucleated. New treatment modalities are expected.
Topics: Disease Management; Humans; Neoplasm Staging; Prognosis; Retinal Neoplasms; Retinoblastoma; Treatment Outcome
PubMed: 15162819
DOI: 10.1007/s10147-003-0366-0