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Trends in Molecular Medicine Oct 2016Retinoblastoma is a rare childhood cancer of the developing retina, and studies on this orphan disease have led to fundamental discoveries in cancer biology.... (Review)
Review
Retinoblastoma is a rare childhood cancer of the developing retina, and studies on this orphan disease have led to fundamental discoveries in cancer biology. Retinoblastoma has also emerged as a model for translational research for pediatric solid tumors, which is particularly important as personalized medicine expands in oncology. Research on retinoblastomas has been combined with the exploration of retinal development and retinal degeneration to advance a new model of cell type-specific disease susceptibility termed 'cellular pliancy'. The concept can even be extended to species-specific regeneration. This review discusses the remarkable path of retinoblastoma research and how it has shaped the most current efforts in basic, translational, and clinical research in oncology and beyond.
Topics: Animals; Child; Humans; Precision Medicine; Regenerative Medicine; Retina; Retinal Neoplasms; Retinoblastoma; Translational Research, Biomedical
PubMed: 27567287
DOI: 10.1016/j.molmed.2016.07.010 -
Tidsskrift For Den Norske Laegeforening... Jan 2004Retinoblastoma is a malignant tumour of the retina that occurs in early childhood. The aim of this paper is to give an updated review of the disease. (Review)
Review
BACKGROUND
Retinoblastoma is a malignant tumour of the retina that occurs in early childhood. The aim of this paper is to give an updated review of the disease.
MATERIAL AND METHODS
A review is given based on literature published over the last few years and on the authors' own experience.
RESULTS
The yearly incidence of retinoblastoma is approximately one per 14 000 live births, which gives four new cases of retinoblastoma per year in Norway. The only known risk factor is heritage. Symptoms of retinoblastoma are strabismus, reduced visual acuity and red eye, but the absolutely most important sign is leukokoria (white pupillary reflex). Important diagnostic tools are ophthalmoscopy, ultrasonography, CT and MRI. The goal of treatment is to destroy all tumour tissue, but not the surrounding tissue. Treatment options are enucleation, chemotherapy, external beam radiation, radioactive isotope plaques, cryotherapy, photocoagulation, or a combination of these depending upon the size and location of the tumour.
INTERPRETATION
The overall results in the treatment of retinoblastoma are favourable and have improved over the last few years because of better treatment modalities. The survival rate is approximately 95%. It is important that physicians bear in mind the signs of retinoblastoma and especially the alarming sign of leukokoria and acute strabismus in a child.
Topics: Child; Diagnosis, Differential; Humans; Infant, Newborn; Prognosis; Retinal Neoplasms; Retinoblastoma
PubMed: 14743233
DOI: No ID Found -
Indian Journal of Ophthalmology Feb 2017The treatment of retinoblastoma (Rb) has improved significantly in recent times. Worldwide, there is an increasing trend to use conservative treatment modalities that... (Review)
Review
The treatment of retinoblastoma (Rb) has improved significantly in recent times. Worldwide, there is an increasing trend to use conservative treatment modalities that aim to preserve the globe as well as vision with minimum morbidity. Recently, the use of targeted delivery of chemotherapy to the eye in the form of selective intra-arterial and intravitreal chemotherapy has shown promising results. Radiotherapy is beneficial in selected cases, either in the form of plaque brachytherapy or as external beam radiotherapy. Orbital disease carries a poor prognosis for survival. However, a multimodal treatment protocol has improved survival in children with extraocular disease. Nevertheless, challenges remain, especially for the developing world. This review aims to highlight recent advances in the management of Rb that have contributed towards improving treatment outcomes and also discuss the challenges ahead, with special reference to the Indian scenario.
Topics: Combined Modality Therapy; Disease Management; Humans; Neoplasm Staging; Retinal Neoplasms; Retinoblastoma
PubMed: 28345569
DOI: 10.4103/ijo.IJO_883_16 -
Ophthalmology Clinics of North America Mar 2005This review provides an update on the current management of advanced retinoblastoma. (Review)
Review
This review provides an update on the current management of advanced retinoblastoma.
Topics: Antineoplastic Combined Chemotherapy Protocols; Chemotherapy, Adjuvant; Eye Enucleation; Humans; Retinal Neoplasms; Retinoblastoma
PubMed: 15763192
DOI: 10.1016/j.ohc.2004.09.001 -
La Revue Du Praticien Apr 2020
Topics: Humans; Retinal Neoplasms; Retinoblastoma
PubMed: 32877098
DOI: No ID Found -
Seminars in Ophthalmology 2016Retinoblastoma (RB) is the most common intraocular malignancy in children. In the past century, RB survival rates in developed countries (DCs) have improved from <5% to... (Comparative Study)
Comparative Study Review
Retinoblastoma (RB) is the most common intraocular malignancy in children. In the past century, RB survival rates in developed countries (DCs) have improved from <5% to as high as 99%. In contrast, in less developed countries (LDCs) where the tumor burden is greatest, survival rates remain poor, with some countries reporting survival rates as low as 0-5%. In addition, there are disparities between DCs and LDCs in RB presentation, treatment modalities, and prognosis. These disparities are due to many underlying causes, including delays in diagnosis, access to medical care, patient and physician familiarity with the disease, availability and cost of treatment, and patient acceptance of enucleation. It is our belief that attempts to extend the improvements in prognosis achieved in DCs to various LDCs must be culturally sensitive and tailored to each country's specific challenges, and thus, a "one-size-fits-all" approach to improving patient outcomes in LDCs is unlikely to work well. We discuss several culturally sensitive approaches that have been successfully implemented in various LDCs, including those that make use of telemedicine and "twinning" with centers of excellence around the world.
Topics: Developed Countries; Developing Countries; Health Status Disparities; Humans; Retinal Neoplasms; Retinoblastoma
PubMed: 27127937
DOI: 10.3109/08820538.2016.1154177 -
Ophthalmic Genetics Jun 2021: Absence of mutation is rare in retinoblastoma and MYCN amplifications were recently identified in a subset of aggressive retinoblastomas occurring in infants. Here we...
: Absence of mutation is rare in retinoblastoma and MYCN amplifications were recently identified in a subset of aggressive retinoblastomas occurring in infants. Here we describe not only the clinical phenotype of MYCN retinoblastoma at presentation, but also the tumor response to the first attempt of conservative management in this context.: Interventional retrospective case report: A 6-month-old boy was referred with right leukocoria. Examination under anesthesia revealed a group D unilateral retinoblastoma with an extensive whitish mass and total retinal detachment. Despite partial response following combined sequential intravenous and intra-arterial chemotherapy, tumor relapse in the aqueous humor occurred with posterior chamber involvement over 360°, this transiently controlled by intracameral and intravitreal melphalan injections. Eleven months post-diagnosis the eye was enucleated due to diffuse retinal recurrence invading the ciliary body and obscuring the optic nerve, associated with neovascular glaucoma. Histopathology revealed a poorly differentiated retinoblastoma with diffuse retinal invasion, extending from the superior ciliary body to the inferior equatorial choroid. There was post laminar optic nerve extension without involvement of the surgical margin. RB1 and diffuse MYCN nuclear expression were identified. FISH and SNP-array confirmed MYCN amplification. At 65 months follow-up the patient remained in good health without local recurrence or metastasis.: To the best of our knowledge, this study is the first to attempt conservative management of an MYCN retinoblastoma, although secondary enucleation could not be avoided due to highly aggressive recurrence resisting all targeted modalities of chemotherapy.
Topics: Eye Enucleation; Gene Amplification; Humans; In Situ Hybridization, Fluorescence; Infant; Male; N-Myc Proto-Oncogene Protein; Polymorphism, Single Nucleotide; Retinal Neoplasms; Retinoblastoma; Retinoblastoma Binding Proteins; Retrospective Studies; Ubiquitin-Protein Ligases
PubMed: 33870828
DOI: 10.1080/13816810.2021.1897847 -
Radiology Jun 2023Background -amplified wild-type () retinoblastoma is a rare but clinically important subtype of retinoblastoma due to its aggressive character and relative resistance...
Background -amplified wild-type () retinoblastoma is a rare but clinically important subtype of retinoblastoma due to its aggressive character and relative resistance to typical therapeutic approaches. Because biopsy is not indicated in retinoblastoma, specific MRI features might be valuable to identify children with this genetic subtype. Purpose To define the MRI phenotype of retinoblastoma and evaluate the ability of qualitative MRI features to help identify this specific genetic subtype. Materials and Methods In this retrospective, multicenter, case-control study, MRI scans in children with retinoblastoma and age-matched children with subtype retinoblastoma were included (case-control ratio, 1:4; scans acquired from June 2001 to February 2021; scans collected from May 2018 to October 2021). Patients with histopathologically confirmed unilateral retinoblastoma, genetic testing ( status), and MRI scans were included. Associations between radiologist-scored imaging features and diagnosis were assessed with the Fisher exact test or Fisher-Freeman-Halton test, and Bonferroni-corrected values were calculated. Results A total of 110 patients from 10 retinoblastoma referral centers were included: 22 children with retinoblastoma and 88 control children with retinoblastoma. Children in the group had a median age of 7.0 months (IQR, 5.0-9.0 months) (13 boys), while children in the group had a median age of 9.0 months (IQR, 4.6-13.4 months) (46 boys). retinoblastomas were typically peripherally located (in 10 of 17 children; specificity, 97%; < .001) and exhibited plaque or pleomorphic shape (in 20 of 22 children; specificity, 51%; = .011) with irregular margins (in 16 of 22 children; specificity, 70%; = .008) and extensive retina folding with vitreous enclosure (specificity, 94%; < .001). retinoblastomas showed peritumoral hemorrhage (in 17 of 21 children; specificity, 88%; < .001), subretinal hemorrhage with a fluid-fluid level (in eight of 22 children; specificity, 95%; = .005), and strong anterior chamber enhancement (in 13 of 21 children; specificity, 80%; = .008). Conclusion retinoblastomas show distinct MRI features that could enable early identification of these tumors. This may improve patient selection for tailored treatment in the future. © RSNA, 2023 See also the editorial by Rollins in this issue.
Topics: Humans; Retinoblastoma; N-Myc Proto-Oncogene Protein; Retrospective Studies; Case-Control Studies; Retinal Neoplasms; Ubiquitin-Protein Ligases; Retinoblastoma Binding Proteins
PubMed: 37191489
DOI: 10.1148/radiol.222264 -
Pediatrie 1992Retinoblastoma (RB) is the most frequent ocular tumor in childhood. Due to recent advances in molecular biology, RB has become a study model for cancer suppressor genes,... (Review)
Review
Retinoblastoma (RB) is the most frequent ocular tumor in childhood. Due to recent advances in molecular biology, RB has become a study model for cancer suppressor genes, and antenatal diagnosis has now become feasible. The goals of therapy include an improved survival rate, decrease in iatrogenic sequelae (especially enucleation), and avoidance of radio-induced neoplasias. This review examines recent data from the literature.
Topics: Child; Eye Neoplasms; Humans; Retinoblastoma
PubMed: 1331956
DOI: No ID Found -
Cancer Control : Journal of the Moffitt... 2004Retinoblastoma is a highly malignant tumor of the eye that manifests most often in the first 3 years of life. (Review)
Review
BACKGROUND
Retinoblastoma is a highly malignant tumor of the eye that manifests most often in the first 3 years of life.
METHODS
Published articles were reviewed to evaluate the clinical features and current methods of diagnosis and to assess the trends in management.
RESULTS
This malignancy leads to metastatic disease and death in 50% of children worldwide but in less than 5% of children in the United States and other developed nations with advanced medical care. Over the past decade, there has been a trend away from enucleation and external beam radiotherapy and toward chemoreduction followed by focal therapies. This is largely due to more effective chemotherapeutic regimens, improved focal treatment modalities, and the desire to avoid loss of the globe and/or exposure to radiotherapy. Chemoreduction and focal therapies are most successful for eyes with minimal to moderate retinoblastoma, with enucleation needed in less than 15% of cases. Eyes with very advanced retinoblastoma require enucleation in approximately 50% of cases.
CONCLUSIONS
Progress in the clinical recognition and management of retinoblastoma has led to high survival rates. Improved methods of treatment using chemoreduction and focal treatments without the need for external beam radiotherapy allow preservation of the eye in some cases, often with visual function.
Topics: Antineoplastic Agents; Child, Preschool; Chromosomes, Human, Pair 13; Combined Modality Therapy; Cryotherapy; Diagnosis, Differential; Eye Diseases; Eye Enucleation; Eye Neoplasms; Gene Deletion; Humans; Hyperthermia, Induced; Infant; Infant, Newborn; Retinoblastoma; Risk Factors; Treatment Outcome
PubMed: 15377991
DOI: 10.1177/107327480401100506