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Mayo Clinic Proceedings Jan 1994The recommended management of retinoblastoma based on personal experience with the assessment and treatment of more than 450 children with this intraocular malignant... (Review)
Review
OBJECTIVE
The recommended management of retinoblastoma based on personal experience with the assessment and treatment of more than 450 children with this intraocular malignant lesion is presented.
RECOMMENDATIONS
Although retinoblastoma is usually managed by enucleation, the treatment of each case must be individualized; in an increasing number of children, the techniques of irradiation, photocoagulation, or cryotherapy are being used. In some patients, a combination of these techniques is necessary. Chemotherapy is often used to prevent distant metastatic involvement, although its effectiveness as a prophylactic treatment has not been clearly established. Because metastatic retinoblastoma is often fatal, intense chemotherapy is recommended in this setting.
CONCLUSION
The prognosis for vision and life in patients with retinoblastoma has improved considerably during the past century, primarily because of earlier recognition of the tumor and use of modern therapeutic methods. All children of parents with a family history of retinoblastoma should be examined by a qualified ophthalmologist immediately after birth in order to detect and treat this condition as early as possible.
Topics: Child; Eye Enucleation; Eye Neoplasms; Humans; Infant; Radiotherapy Dosage; Retinoblastoma
PubMed: 8271852
DOI: 10.1016/s0025-6196(12)61612-7 -
Pflugers Archiv : European Journal of... Oct 2021Retinoblastoma is the most common malignant intraocular tumor in children. Y79 human retinoblastoma cells are in vitro models of retinal tumors used for drug screening....
Retinoblastoma is the most common malignant intraocular tumor in children. Y79 human retinoblastoma cells are in vitro models of retinal tumors used for drug screening. Undifferentiated Y79 cells originate from a primitive multi-potential neuroectodermal cell and express neuronal and glial properties. However, the nature of cellular heterogeneity in Y79 cells is unclear because functional methods to characterize neurons or glial cells have not been employed to Y79 cells. Here, we perform patch-clamp recordings to characterize electrophysiological properties in retinoblastoma cells. We identified a population of large-sized Y79 cells (i.e., giant cells, ~ 40-µm diameter), hyperpolarized resting membrane potential (-54 mV), and low input resistance (~ 600 MΩ), indicating electrically mature cells. We also found that giant Y79 cells contain increased density of T-type calcium channels. Finally, we found that T-type calcium channels are active only in giant cells suggesting that cancer treatments aimed to prevent calcium influx in retinoblastomas should be tested in giant cells.
Topics: Calcium Channels, T-Type; Cell Line, Tumor; Gene Expression Regulation, Neoplastic; Giant Cells; Humans; Retinal Neoplasms; Retinoblastoma
PubMed: 34392423
DOI: 10.1007/s00424-021-02612-4 -
Oncogene Aug 2006Retinoblastoma represents the prototypic model for inherited cancers. The RB1 gene was the first tumor suppressor gene to be identified. It represents the most frequent... (Review)
Review
Retinoblastoma represents the prototypic model for inherited cancers. The RB1 gene was the first tumor suppressor gene to be identified. It represents the most frequent primary eye cancer in children under 15 years old, habitually occurring in infancy, even in utero, but can be observed in older children or young adults. Many other retinal lesions may also simulate retinoblastoma. The two major presenting signs are leukocoria and strabismus, but other ocular or general signs may be observed. A highly malignant tumor, retinoblastoma can nowadays be cured. The heritable form, however, carries a high risk of second nonocular tumors. Treatment in the early stages of disease holds a good prognosis for survival and salvage of visual function. In very late stages, however, the prognosis for ocular function and even survival is jeopardized.
Topics: Cell Division; Genes, Retinoblastoma; Humans; Hyperthermia, Induced; Neoplasm Metastasis; Neoplasms, Second Primary; Retinal Neoplasms; Retinoblastoma
PubMed: 16936756
DOI: 10.1038/sj.onc.1209622 -
Radiographics : a Review Publication of... Apr 2024Retinoblastoma is the most common cause of all intraocular pediatric malignancies. It is caused by the loss of tumor suppressor gene function, although some tumors... (Review)
Review
Retinoblastoma is the most common cause of all intraocular pediatric malignancies. It is caused by the loss of tumor suppressor gene function, although some tumors occur due to oncogene amplification with normal genes. Nearly half of all retinoblastomas occur due to a hereditary germline pathogenic variant, most of which manifest with bilateral tumors. This germline mutation also predisposes to intracranial midline embryonal tumors. Accurate staging of retinoblastoma is crucial in providing optimal vision-, eye-, and life-saving treatment. The has undergone significant changes, resulting in a universally accepted system with a multidisciplinary approach for managing retinoblastoma. The authors discuss the role of MRI and other diagnostic imaging techniques in the pretreatment assessment and staging of retinoblastoma. A thorough overview of the prevailing imaging standards and evidence-based perspectives on the benefits and drawbacks of these techniques is provided. Published under a CC BY 4.0 license. Test Your Knowledge questions for this article are available in the supplemental material.
Topics: Child; Humans; Diagnostic Imaging; Mutation; Neoplasm Staging; Oncologists; Ophthalmologists; Retinal Neoplasms; Retinoblastoma
PubMed: 38451848
DOI: 10.1148/rg.230125 -
Ophthalmology Jun 1987Retinoblastoma was first described as a specific entity by James Wardrop in 1809, with enucleation as his suggested treatment. Histologic studies including those of... (Review)
Review
Retinoblastoma was first described as a specific entity by James Wardrop in 1809, with enucleation as his suggested treatment. Histologic studies including those of Flexner and Verhoeff and subsequent electron microscopy have given insights into its pathogenesis. The establishment of cell lines of retinoblastoma, the "nude" mouse model, and other animal models have contributed additional information. Classic genetic and epidemiologic studies have led to a broad and intense interest in the tumor despite its relative infrequency. Attempts now in progress to identify and characterize the oncogene for retinoblastoma may prove to be the most exciting part of the history of retinoblastoma.
Topics: Eye Neoplasms; History, 17th Century; History, 18th Century; History, 19th Century; History, 20th Century; Humans; Retinoblastoma
PubMed: 3306547
DOI: 10.1016/s0161-6420(87)33407-4 -
Canadian Journal of Ophthalmology.... Apr 2005
Review
Topics: Adult; Biomarkers, Tumor; Eye Enucleation; Female; Humans; Retinal Neoplasms; Retinoblastoma
PubMed: 16049534
DOI: 10.1016/S0008-4182(05)80032-8 -
Laboratory Investigation; a Journal of... Jun 2021This study focuses on gene expression differences between early retinal states that ultimately lead to normal development, late onset retinoblastoma, or rapid bilateral...
This study focuses on gene expression differences between early retinal states that ultimately lead to normal development, late onset retinoblastoma, or rapid bilateral retinoblastoma tumors. The late-onset and early-onset retinoblastoma tumor cells are remarkably similar to normally proliferating retinal progenitor cells, but they fail to properly express differentiation markers associated with normal development. Further, early-onset retinoblastoma tumor cells express a robust immune gene expression signature followed by accumulation of dendritic, monocyte, macrophage, and T-lymphocyte cells in the retinoblastoma tumors. This characteristic was not shared by either normal retinae or late-onset retinoblastomas. Comparison of our data with other human and mouse retinoblastoma tumor gene expression significantly confirmed, that the immune signature is present in tumors from each species. Strikingly, we observed that the immune signature in both mouse and human tumors was most highly evident in those with the lowest proliferative capacity. We directly assessed this relationship in human retinoblastoma tumors by co-analyzing proliferation and immune cell recruitment by immunohistochemistry, uncovering a significant inverse relationship between increased immune-cell infiltration in tumors and reduced tumor cell proliferation. Directly inhibiting proliferation with a PI3K/mTOR inhibitor significantly increased the number of CD45 immune cells in the retina. This work establishes an in vivo model for the rapid recruitment of immune cells to tumorigenic neural tissue.
Topics: Animals; Cell Cycle; Cell Proliferation; Humans; Mice; Neoplasms, Experimental; Retina; Retinoblastoma
PubMed: 33658609
DOI: 10.1038/s41374-021-00573-x -
Current Oncology Reports Nov 2007Retinoblastoma was traditionally treated with enucleation and external-beam radiotherapy. However, in the past decade, systemic chemotherapy has become the primary... (Review)
Review
Retinoblastoma was traditionally treated with enucleation and external-beam radiotherapy. However, in the past decade, systemic chemotherapy has become the primary globe-salvaging approach. This approach is generally combined with focal treatment, allowing for tumor consolidation following initial chemoreduction. A recently developed classification scheme may improve our ability to predict outcomes with this treatment modality. The Children's Oncology Group has initiated a series of prospective multicenter trials to improve treatment outcomes with systemic chemotherapy.
Topics: Child; Clinical Trials as Topic; Humans; Retinoblastoma
PubMed: 17991352
DOI: 10.1007/s11912-007-0063-7 -
Irish Journal of Medical Science Feb 1969
Review
Topics: Antibodies; DNA, Neoplasm; Humans; Phenylacetates; Retinoblastoma; Vanilmandelic Acid
PubMed: 4892363
DOI: 10.1007/BF02958908 -
Drugs Dec 1999Retinoblastoma is the most common primary intraocular tumour in children, with an incidence of 1 in 15,000 live births. Treatment strategies for retinoblastoma have... (Review)
Review
Retinoblastoma is the most common primary intraocular tumour in children, with an incidence of 1 in 15,000 live births. Treatment strategies for retinoblastoma have gradually evolved over the past few decades. There has been a trend away from enucleation (removal of the eye) and external beam radiation therapy toward focal 'conservative' treatments. Every effort has been made to save the child's life with preservation of eye and sight, if possible. Primary enucleation continues to be the commonly used method of treatment for retinoblastoma. It is employed in situations where eyes contain large tumours, long standing retinal detachments, neovascular glaucoma and suspicion of optic nerve invasion or extrascleral extension. Most of these eyes either have or are expected to have no useful vision. Radiation therapy continues to be an effective treatment option for retinoblastoma. However, external beam radiotherapy has unfortunately been associated with secondary non-ocular cancers in the field of radiation (primarily in children carrying the RB-1 germline mutation). Ophthalmic plaque brachytherapy has a more focal and shielded radiation field, and may carry less risk. Unfortunately, its applicability is limited to small to medium-sized retinoblastomas in accessible locations. Cryotherapy and transpupillary thermotherapy (TTT) have been used to provide control of selected small tumours. TTT is an advanced laser system adapted to the indirect ophthalmoscope which provides flexible nonsurgical treatment for small retinoblastomas. Recent research in the treatment of retinoblastoma has concentrated on methods of combining chemotherapy with other local treatment modalities (TTT, radiotherapy, cryotherapy). This approach combines the principle of chemotherapeutic debulking in paediatric oncology with conservative focal therapies in ophthalmology. Termed chemoreduction, intravenous or subconjunctival chemotherapy is used to debulk the initial tumour volume and allow for local treatment with TTT, cryotherapy and plaque radiotherapy. Cyclosporin has been added to the chemotherapy regimen in several centres. Other clinical settings where chemotherapy is considered are situations where the histopathology suggests a high risk for metastatic disease and where there is extraocular extension. There is no consensus that chemotherapy is needed when choroidal invasion is observed on histopathology. However, in patients where the retinoblastoma is noted beyond the cut end of the optic nerve or if there is disruption of the sclera with microscopic invasion of the orbital tissue, treatment has been helpful. Systemic and intrathecal chemotherapy with local and cranial radiotherapy has improved the survival of these patients. Most recently, the use of new chemotherapy modalities with haematopoietic stem cell rescue or local radiotherapy has increased the survival of patients with distant metastasis. Nevertheless, the prognosis of patients with central nervous system involvement is still poor.
Topics: Animals; Antineoplastic Agents; Child; Eye Neoplasms; Humans; Retinoblastoma
PubMed: 10651386
DOI: 10.2165/00003495-199958060-00003