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Survey of Ophthalmology 2022Cavitary retinoblastoma is a rare tumor variant manifesting in the form of ophthalmoscopically visible translucent cavities within the tumor. The pathogenesis of the... (Review)
Review
Cavitary retinoblastoma is a rare tumor variant manifesting in the form of ophthalmoscopically visible translucent cavities within the tumor. The pathogenesis of the cavitary variant is unknown. Histopathologically, the cavitary spaces represent photoreceptor differentiation in the areas adjacent to the cavitations, which might explain variable response to chemotherapy with lower risk of reactivation and good prognosis. There is, however, little understanding about its origin, frequency, pathogenesis, and clinical significance. In this systematic review of the literature, we analyze epidemiology, clinical presentation, genetic implications, imaging, and treatment outcomes of various regimens (intravenous, intra-arterial, and focal) in terms of local control, recurrences, and globe salvage rates.
Topics: Humans; Infant; Retinal Neoplasms; Retinoblastoma; Retrospective Studies; Treatment Outcome
PubMed: 34648817
DOI: 10.1016/j.survophthal.2021.10.002 -
Expert Opinion on Therapeutic Targets Nov 2022Retinoblastoma (Rb) is an early childhood intraocular tumor of the retina and is managed by multimodal therapeutic approaches. Recent advanced targeted delivery of... (Review)
Review
INTRODUCTION
Retinoblastoma (Rb) is an early childhood intraocular tumor of the retina and is managed by multimodal therapeutic approaches. Recent advanced targeted delivery of chemotherapeutic drugs to the eye has improved the possibility of globe salvage. However, enucleation is inevitable for advanced and recurrent Rb. The cumulative knowledge of identification of newer molecular biology tools, exosomal cargo, role of cancer stem cells (CSCs), and its microenvironment in the progression of the diseases warrants a relook at the traditional treatment protocol and explore the feasibility of targeted therapies.
AREAS COVERED
This review covers Rb pathobiology, novel molecular-targeted therapeutics, and strategies targeting Rb CSCs and provides an update on potential therapeutic targets such as second messengers and exosomal cargo.
EXPERT OPINION
The emergence of early diagnosis and multimodality treatment protocols have significantly improved the clinical outcome of children with advanced Rb; however, the problem of tumor recurrence has not yet been overcome. Improved understanding of the molecular pathways, identification, and characterization of CSCs opens up new targeted therapy approaches. The contemporary evidence from other fields shows promising evidence that combining conservative treatment modalities with targeting therapies specific for CSCs in clinical practice is essential for achieving high globe salvage rate in Rb patients.
Topics: Child, Preschool; Child; Humans; Retinoblastoma; Retinal Neoplasms; Combined Modality Therapy; Neoplastic Stem Cells; Tumor Microenvironment
PubMed: 36524402
DOI: 10.1080/14728222.2022.2158812 -
Indian Journal of Ophthalmology Jul 2016Retinoblastoma (RB) is the most common primary malignant intraocular tumor of childhood presenting usually before 5 years of age. RB in adults older than 20 years is... (Review)
Review
Retinoblastoma (RB) is the most common primary malignant intraocular tumor of childhood presenting usually before 5 years of age. RB in adults older than 20 years is extremely rare. A literature search using PubMed/PubMed Central, Scopus, Google Scholar, EMBASE, and Cochrane databases revealed only 45 cases till date. Over the past decade, there has been a significant increase in the number of such reports, indicating heightened level of suspicion among ophthalmologists. Compared to its pediatric counterpart, adult onset RB poses unique challenges in diagnosis and treatment. This article summarizes available literature on adult onset RB and its clinical and pathologic profile, genetics, association with retinocytoma, diagnostics, treatment, and outcomes.
Topics: Age of Onset; Disease Management; Global Health; Humans; Morbidity; Retinal Neoplasms; Retinoblastoma
PubMed: 27609158
DOI: 10.4103/0301-4738.190099 -
Der Ophthalmologe : Zeitschrift Der... Apr 2020Retinoblastomas represent 6% of all malignant tumors in children under 5 years old, which untreated lead to blindness in the affected eye and death due to metastases....
Retinoblastomas represent 6% of all malignant tumors in children under 5 years old, which untreated lead to blindness in the affected eye and death due to metastases. The main symptoms are leukocoria and strabismus, which if possible, always necessitate a clarification within 1 week for exclusion of a retinoblastoma. The most frequent differential diagnoses are Coats' disease and persistent fetal vasculature (PFV) as well as other intraocular tumors, in particular astrocytomas. Systemic chemotherapy, if necessary in combination with laser hyperthermia, local chemotherapy and brachytherapy are the most important methods for eye-preserving treatment. Advanced cases mostly necessitate enucleation.
Topics: Brachytherapy; Child, Preschool; Eye Enucleation; Humans; Infant; Persistent Hyperplastic Primary Vitreous; Retinal Neoplasms; Retinal Telangiectasis; Retinoblastoma
PubMed: 32206913
DOI: 10.1007/s00347-020-01081-x -
Clinical Cancer Research : An Official... Jul 2017Retinoblastoma (RB) is the most common intraocular malignancy in childhood. Approximately 40% of retinoblastomas are hereditary and due to germline mutations in the... (Review)
Review
Retinoblastoma (RB) is the most common intraocular malignancy in childhood. Approximately 40% of retinoblastomas are hereditary and due to germline mutations in the 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 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 and 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. .
Topics: Anaplastic Lymphoma Kinase; Genetic Predisposition to Disease; Homeodomain Proteins; Humans; Neuroblastoma; Neuroimaging; Pinealoma; Receptor Protein-Tyrosine Kinases; Retinoblastoma; Retinoblastoma Binding Proteins; Transcription Factors; Ubiquitin-Protein Ligases
PubMed: 28674118
DOI: 10.1158/1078-0432.CCR-17-0652 -
Mymensingh Medical Journal : MMJ Jul 2021Retinoblastoma is the most common primary intraocular tumor with an incidence of 1: 16,000 to 18,000 live birth and represents 11% of cancer that develop in the first... (Review)
Review
Retinoblastoma is the most common primary intraocular tumor with an incidence of 1: 16,000 to 18,000 live birth and represents 11% of cancer that develop in the first year of life. Retinoblastoma may be unilateral (60%) or bilateral (40%). Bilateral cases always heritable and median age of diagnosis is 1 year. Unilateral cases are mostly non heritable but 15% can be heritable and median age of presentation is 2 years. All children with heritable form carry mutation in RB1 gene. Though most frequent symptoms during diagnosis are leucocoria and strabismus, can present as most severe form in under developed countries. Diagnosis is made by fundus examination. Ultrasonography and imaging (CT, MRI) contribute both in diagnosis and assessment of extension of diseases. The aim of treatment is to save the child first, followed by globe and vision salvage. Treatment depends on laterality, size, location and extent of tumor. The main prognosis depends on early detection of tumor and treating the child by multidisciplinary team approach. Due to advancement in treatment modalities for the last two decade the survival rate of retinoblastoma has increased. But long term follow up is mandatory for retinoblastoma survivor as there is risk for development of second cancers in later life. Proper genetic screening and genetic counseling can help parents and patients in their adulthood to understand the disease properly.
Topics: Adult; Child; Child, Preschool; Genetic Counseling; Humans; Infant; Mutation; Prognosis; Retinal Neoplasms; Retinoblastoma
PubMed: 34226484
DOI: No ID Found -
La Revue Du Praticien Oct 2017Retinoblastoma. Retinoblastoma is the most frequent malignant intraocular tumour of childhood. It is a rare disease occurring in very young children. It is a genetic...
Retinoblastoma. Retinoblastoma is the most frequent malignant intraocular tumour of childhood. It is a rare disease occurring in very young children. It is a genetic disease due to the mutation of the RB1gene. Today survival is excellent (98%) in developed countries, however lower survival rates are observed in the developing world where children still die of the disease. Visual prognosis depends on the possibility to realize a conservative treatment as well as the size and location of the tumors. The two main presenting signs of retinoblastoma are leukocoria and strabismus. Every suspicion of leukocoria requires prompt fundus examination.
Topics: Child; Child, Preschool; Female; Humans; Infant; Prognosis; Retinal Neoplasms; Retinoblastoma; Survival Rate
PubMed: 30512823
DOI: No ID Found -
Asia-Pacific Journal of Ophthalmology... Jul 2021
Topics: Humans; Retinal Neoplasms; Retinoblastoma; Skin Neoplasms
PubMed: 34284457
DOI: 10.1097/APO.0000000000000408 -
Seminars in Diagnostic Pathology May 2016Retinoblastoma is the most common ocular malignancy in children, and is initiated by mutation of the RB1 gene. The tumor may be unilateral or bilateral and can be...
Retinoblastoma is the most common ocular malignancy in children, and is initiated by mutation of the RB1 gene. The tumor may be unilateral or bilateral and can be inherited. Overall survival, eye salvage, and preservation of vision are largely dependent on the stage of disease at presentation. Despite a recently enhanced understanding of the etiology of retinoblastoma, the mortality associated with it remains high worldwide. This may relate to a continuing lack of awareness of the lesion by laypersons, and unavailability of modern treatment facilities. Adverse outcomes are also caused by the occurrence of secondary malignancies after treatment of retinoblastoma in childhood. Early diagnosis, multidisciplinary treatment, and genetic counseling are all priorities in the management of this tumor.
Topics: Diagnosis, Differential; Humans; Neoplasm Staging; Retina; Retinal Neoplasms; Retinoblastoma; Risk Factors
PubMed: 26969537
DOI: 10.1053/j.semdp.2015.10.007 -
Archives de Pediatrie : Organe Officiel... Jan 2016Retinoblastoma is the most common intraocular malignancy of infancy with an incidence of 1/15,000 births. Sixty percent of retinoblastomas are unilateral, with a median... (Review)
Review
Retinoblastoma is the most common intraocular malignancy of infancy with an incidence of 1/15,000 births. Sixty percent of retinoblastomas are unilateral, with a median age at diagnosis of 2 years, and in most cases they are not hereditary. Retinoblastoma is bilateral in 40% of cases, with an earlier median age at diagnosis of 1 year. All bilateral and multifocal unilateral forms are hereditary and are part of a genetic cancer predisposition syndrome. All children with a bilateral or familial form, and 10-15% of children with a unilateral form, constitutionally carry an RB1 gene mutation. The two most frequent symptoms at diagnosis are leukocoria and strabismus. Diagnosis is made by fundoscopy, with ultrasound and magnetic resonance imaging (MRI) contributing both to diagnosis and assessment of the extension of the disease. Treatment of patients with retinoblastoma must take into account the various aspects of the disease (unilateral/bilateral, size, location), the risks for vision, and the possible hereditary nature of the disease. The main prognostic aspects are still early detection and adapted coverage by a multidisciplinary, highly specialized team. Enucleation is still often necessary in unilateral disease; the decision for adjuvant treatment is made according to the histological risk factors. The most important recent therapeutic advances concern conservative treatment, which is proposed for at least one of the two eyes in most bilateral cases: laser alone or in combination with chemotherapy, cryotherapy, or brachytherapy. Recently, the development of new conservative techniques of treatment, such as intra-arterial selective chemotherapy perfusion and intravitreal injections, aims at preserving visual function in these children and decreasing the number of enucleations and the need for external beam radiotherapy. The vital prognosis related to retinoblastoma is now excellent in industrialized countries, but long-term survival is still related to the development of secondary tumors, mainly secondary sarcoma. Retinoblastoma requires multidisciplinary care as well as a long-term specialized follow-up. Early counseling of patients and their family concerning the risk of transmission of the disease and the risk of development of secondary tumors is necessary.
Topics: Child; Humans; Incidence; Prognosis; Reflex, Pupillary; Retinal Neoplasms; Retinoblastoma; Retinoblastoma Protein; Strabismus
PubMed: 26679524
DOI: 10.1016/j.arcped.2015.09.025