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Indian Journal of Ophthalmology Nov 2020Retinoblastoma management remains complex, requiring individualized treatment based on International Classification of Retinoblastoma (ICRB) staging, germline mutation... (Review)
Review
Retinoblastoma management remains complex, requiring individualized treatment based on International Classification of Retinoblastoma (ICRB) staging, germline mutation status, family psychosocial factors and cultural beliefs, and available institutional resources. For this 2020 retinoblastoma review, PubMed was searched for articles dated as early as 1931, with an emphasis on articles from 1990 to the present day, using keywords of retinoblastoma, chemotherapy, intravenous chemotherapy, chemoreduction, intra-arterial chemotherapy, ophthalmic artery chemosurgery, intravitreal chemotherapy, intracameral chemotherapy, cryotherapy, transpupillary thermotherapy, laser, radiation, external beam radiotherapy, plaque radiotherapy, brachytherapy, and enucleation. We discuss current treatment modalities as used in the year 2020, including intravenous chemotherapy (IVC), intra-arterial chemotherapy (IAC), intravitreal chemotherapy (IvitC), intracameral chemotherapy (IcamC), consolidation therapies (cryotherapy and transpupillary thermotherapy [TTT]), radiation-based therapies (external beam radiotherapy [EBRT] and plaque radiotherapy), and enucleation. Additionally, we present a consensus treatment algorithm based on the agreement of three North American retinoblastoma treatment centers, and encourage further collaboration amongst the world's most expert retinoblastoma treatment centers in order to develop consensus management plans and continue advancement in the identification and treatment of this childhood cancer.
Topics: Antineoplastic Combined Chemotherapy Protocols; Child; Combined Modality Therapy; Cryotherapy; Eye Enucleation; Humans; Infant; Retinal Neoplasms; Retinoblastoma
PubMed: 33120616
DOI: 10.4103/ijo.IJO_721_20 -
Journal of Neuroscience Research Jan 2019The pediatric ocular cancer retinoblastoma is the only central nervous system (CNS) tumor readily observed without specialized equipment: it can be seen by, and in, the... (Review)
Review
The pediatric ocular cancer retinoblastoma is the only central nervous system (CNS) tumor readily observed without specialized equipment: it can be seen by, and in, the naked eye. This accessibility enables unique imaging modalities. Here, we review this cancer for a neuroscience audience, highlighting these clinical and research imaging options, including fundus imaging, optical coherence tomography, ultrasound, and magnetic resonance imaging. We also discuss the subtype of retinoblastoma driven by the MYCN oncogene more commonly associated with neuroblastoma, and consider trilateral retinoblastoma, in which an intracranial tumor arises along with ocular tumors in patients with germline RB1 gene mutations. Retinoblastoma research and clinical care can offer insights applicable to CNS malignancies, and also benefit from approaches developed elsewhere in the CNS.
Topics: Animals; Child; Humans; Models, Animal; Mutation; Retinal Neoplasms; Retinoblastoma
PubMed: 29314142
DOI: 10.1002/jnr.24213 -
Cell Communication and Signaling : CCS Sep 2023With an average incidence of 1 in every 18,000 live births, retinoblastoma is a rare type of intraocular tumour found to affect patients during their early childhood. It... (Review)
Review
With an average incidence of 1 in every 18,000 live births, retinoblastoma is a rare type of intraocular tumour found to affect patients during their early childhood. It is curable if diagnosed at earlier stages but can become life-threateningly malignant if not treated timely. With no racial or gender predisposition, or even environmental factors known to have been involved in the incidence of the disease, retinoblastoma is often considered a clinical success story in pediatric oncology. The survival rate in highly developed countries is higher than 95% and they have achieved this because of the advancement in the development of diagnostics and treatment techniques. This includes developing the already existing techniques like chemotherapy and embarking on new strategies like enucleation, thermotherapy, cryotherapy, etc. Early diagnosis, studies on the etiopathogenesis and genetics of the disease are the need of the hour for improving the survival rates. According to the Knudson hypothesis, also known as the two hit hypothesis, two hits on the retinoblastoma susceptibility (RB) gene is often considered as the initiating event in the development of the disease. Studies on the molecular basis of the disease have also led to deciphering the downstream events and thus in the discovery of biomarkers and related targeted therapies. Furthermore, improvements in molecular biology techniques enhanced the development of efficient methods for early diagnosis, genetic counseling, and prevention of the disease. In this review, we discuss the genetic and molecular features of retinoblastoma with a special emphasis on the mutation leading to the dysregulation of key signaling pathways involved in cell proliferation, DNA repair, and cellular plasticity. Also, we describe the classification, clinical and epidemiological relevance of the disease, with an emphasis on both the traditional and innovative treatments to tackle retinoblastoma. Video Abstract.
Topics: Child, Preschool; Child; Humans; Retinoblastoma; Cell Proliferation; DNA Repair; Retinal Neoplasms
PubMed: 37667345
DOI: 10.1186/s12964-023-01223-z -
Blood Oct 2021Primary vitreoretinal lymphoma (PVRL) is a rare form of primary central nervous system (CNS) lymphoma (PCNSL) arising in the intraocular compartment without brain... (Review)
Review
Primary vitreoretinal lymphoma (PVRL) is a rare form of primary central nervous system (CNS) lymphoma (PCNSL) arising in the intraocular compartment without brain involvement. Despite its apparent indolent clinical course, PVRL can cause permanent vision loss and CNS relapse, the major cause of death in patients with PVRL. The pathophysiology of PVRL is unknown. As in PCNSL, the transformation of the tumor cells likely originates outside the CNS, before the cells migrate to the eye and proliferate within an immune-permissive microenvironment. PVRL exhibits a biased immunoglobulin repertoire, suggesting underlying antigen selection. The diagnosis remains challenging, requiring close coordination between ophthalmologists and cytologists. Because of their rarity and fragility in the vitreous, lymphoma cells cannot always be identified. Interleukin levels, molecular biology, and imaging are used in combination with clinical ophthalmological examination to support the diagnosis of PVRL. Multi-institutional prospective studies are urgently needed to validate the equivocal conclusions regarding treatments drawn from heterogeneous retrospective or small cohort studies. Intravitreal injection of methotrexate or rituximab or local radiotherapy is effective at clearing tumor cells within the eyes but does not prevent CNS relapse. Systemic treatment based on high-dose methotrexate chemotherapy, with or without local treatment, might reduce this risk. At relapse, intensive consolidation chemotherapy followed by stem cell transplantation can be considered. Single-agent ibrutinib, lenalidomide, and temozolomide treatments are effective in patients with relapsed PVRL and should be tested as first-line treatments. Therapeutic response assessment based on clinical examination is improved by measuring cytokine levels but still needs to be refined.
Topics: Animals; Disease Management; Humans; Retina; Retinal Neoplasms; Vitreous Body
PubMed: 34036310
DOI: 10.1182/blood.2020008235 -
Indian Journal of Ophthalmology Sep 2017We describe a case of a 65-year old man diagnosed with retinal vasoproliferative tumour secondary to posterior uveitis. The fluorescein angiography shows an interesting...
We describe a case of a 65-year old man diagnosed with retinal vasoproliferative tumour secondary to posterior uveitis. The fluorescein angiography shows an interesting meteor-like leak emanating from the tumour and rising towards the superior retina in the later frames of the angiogram. Pictorially, we call it the "Retinal Meteor" and also describe the possible mechanism for this pattern of leakage.
Topics: Aged; Diagnosis, Differential; Fluorescein Angiography; Fundus Oculi; Humans; Male; Retinal Neoplasms; Retinal Vessels; Tomography, Optical Coherence; Uveitis, Posterior
PubMed: 28905838
DOI: 10.4103/ijo.IJO_68_17 -
Singapore Medical Journal Feb 2012Retinoblastoma is the most common intraocular malignancy in children and one of the very few life-threatening ophthalmic conditions. Genetically, the disease may be... (Review)
Review
Retinoblastoma is the most common intraocular malignancy in children and one of the very few life-threatening ophthalmic conditions. Genetically, the disease may be heritable or non-heritable. It can have unilateral or bilateral involvement and can present either sporadically or with a positive family history. Leukocoria and strabismus are the most common presentations. Diagnosis is made by indirect ophthalmoscopy aided by imaging techniques. Multidisciplinary management is aimed at saving lives, salvaging the globe and maintaining good vision. The use of neoadjuvant chemotherapy and focal treatments, such as cryotherapy, laser photocoagulation, transpupillary thermotherapy, brachytherapy and periocular chemotherapy, form the mainstay of globe preserving treatment in retinoblastoma. In developing countries, retinoblastoma is unfortunately accompanied by a high mortality rate due to delayed diagnosis made at advanced stages of the disease. Early diagnosis and timely management are vital for a good prognosis.
Topics: Child; Humans; Retina; Retinal Neoplasms; Retinoblastoma
PubMed: 22337189
DOI: No ID Found -
Lancet (London, England) Apr 2012Retinoblastoma is an aggressive eye cancer of infancy and childhood. Survival and the chance of saving vision depend on severity of disease at presentation.... (Comparative Study)
Comparative Study Review
Retinoblastoma is an aggressive eye cancer of infancy and childhood. Survival and the chance of saving vision depend on severity of disease at presentation. Retinoblastoma was the first tumour to draw attention to the genetic aetiology of cancer. Despite good understanding of its aetiology, mortality from retinoblastoma is about 70% in countries of low and middle income, where most affected children live. Poor public and medical awareness, and an absence of rigorous clinical trials to assess innovative treatments impede progress. Worldwide, most of the estimated 9000 newly diagnosed patients every year will die. However, global digital communications present opportunities to optimise standards of care for children and families affected by this rare and often devastating cancer. Parents are now leading the effort for widespread awareness of the danger of leucocoria. Genome-level technologies could make genetic testing a reality for every family affected by retinoblastoma. Best-practice guidelines, online sharing of pathological images, point-of-care data entry, multidisciplinary research, and clinical trials can reduce mortality. Most importantly, active participation of survivors and families will ensure that the whole wellbeing of the child is prioritised in any treatment plan.
Topics: Age Distribution; Child; Child, Preschool; Combined Modality Therapy; Female; Genetic Testing; Global Health; Humans; Incidence; Infant; Male; Neoplasm Invasiveness; Neoplasm Staging; Prognosis; Retinal Neoplasms; Retinoblastoma; Risk Assessment; Sex Distribution; Survival Analysis
PubMed: 22414599
DOI: 10.1016/S0140-6736(11)61137-9 -
Eye (London, England) Apr 2023The assessment of vision has a growing importance in the management of retinoblastoma in the era of globe-conserving therapy, both prior to and after treatment. As... (Review)
Review
The assessment of vision has a growing importance in the management of retinoblastoma in the era of globe-conserving therapy, both prior to and after treatment. As survival rates approach 98-99% and globe salvage rates reach ever-higher levels, it is important to provide families with information regarding the visual outcomes of different treatments. We present an overview of the role of vision in determining the treatment given and the impact of complications of treatment. We also discuss screening and treatment strategies that can be used to maximise vision.
Topics: Humans; Retinoblastoma; Retinal Neoplasms; Visual Acuity; Antineoplastic Combined Chemotherapy Protocols; Eye Enucleation; Retrospective Studies; Treatment Outcome
PubMed: 34987197
DOI: 10.1038/s41433-021-01845-y -
Asia-Pacific Journal of Ophthalmology... 2016Retinoblastoma is a malignant retinal tumor that affects young children. Mutations in the RB1 gene cause retinoblastoma. Mutations in both RB1 alleles within the... (Review)
Review
Retinoblastoma is a malignant retinal tumor that affects young children. Mutations in the RB1 gene cause retinoblastoma. Mutations in both RB1 alleles within the precursor retinal cell are essential, with one mutation that may be germline or somatic and the second one that is always somatic. Identification of the RB1 germline status of a patient allows differentiation between sporadic and heritable retinoblastoma variants. Application of this knowledge is crucial for assessing short-term (risk of additional tumors in the same eye and other eye) and long-term (risk of nonocular malignant tumors) prognosis and offering cost-effective surveillance strategies. Genetic testing and genetic counseling are therefore essential components of care for all children diagnosed with retinoblastoma. The American Joint Committee on Cancer has acknowledged the importance of detecting this heritable trait and has introduced the letter "H" to denote a heritable trait of all cancers, starting with retinoblastoma (in publication). In this article, we discuss the clinically relevant aspects of genetic testing and genetic counseling for a child with retinoblastoma.
Topics: DNA, Neoplasm; Genes, Retinoblastoma; Genetic Predisposition to Disease; Genetic Testing; Humans; Mutation; Retinal Neoplasms; Retinoblastoma; Retinoblastoma Binding Proteins; Ubiquitin-Protein Ligases
PubMed: 27488068
DOI: 10.1097/APO.0000000000000219 -
Asia-Pacific Journal of Ophthalmology... 2018Retinoblastoma can present in 1 or both eyes and is the most common intraocular malignancy in childhood. It is typically initiated by biallelic mutation of the RB1 tumor... (Review)
Review
Retinoblastoma can present in 1 or both eyes and is the most common intraocular malignancy in childhood. It is typically initiated by biallelic mutation of the RB1 tumor suppressor gene, leading to malignant transformation of primitive retinal cells. The most common presentation is leukocoria, followed by strabismus. Heritable retinoblastoma accounts for 45% of all cases, with 80% being bilateral. Treatment and prognosis of retinoblastoma is dictated by the disease stage at initial presentation. The 8th Edition American Joint Committee on Cancer (AJCC) TNMH (tumor, node, metastasis, heritable trait) staging system defines evidence-based clinical and pathological staging for overall prognosis for eye(s) and child. Multiple treatment options are available in 2018 for retinoblastoma management with a multidisciplinary team, including pediatric ocular oncology, medical oncology, radiation oncology, genetics, nursing, and social work. Survival exceeds 95% when disease is diagnosed early and treated in centers specializing in retinoblastoma. However, survival rates are less than 50% with extraocular tumor dissemination. We summarize the epidemiology, genetics, prenatal screening, diagnosis, classification, investigations, and current therapeutic options in the management of retinoblastoma.
Topics: Child; DNA, Neoplasm; Genes, Retinoblastoma; Genetic Testing; Humans; Mutation; Ophthalmologists; Retinal Neoplasms; Retinoblastoma
PubMed: 29737052
DOI: 10.22608/APO.201870