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Ophthalmology Apr 2024To describe the clinical presentation and treatment outcomes of children who received a diagnosis of retinoblastoma in 2017 throughout Asia.
PURPOSE
To describe the clinical presentation and treatment outcomes of children who received a diagnosis of retinoblastoma in 2017 throughout Asia.
DESIGN
Multinational, prospective study including treatment-naïve patients in Asia who received a diagnosis of retinoblastoma in 2017 and were followed up thereafter.
PARTICIPANTS
A total of 2112 patients (2797 eyes) from 96 retinoblastoma treatment centers in 33 Asian countries.
INTERVENTIONS
Chemotherapy, radiotherapy, enucleation, and orbital exenteration.
MAIN OUTCOME MEASURES
Enucleation and death.
RESULTS
Within the cohort, 1021 patients (48%) were from South Asia (SA), 503 patients (24%) were from East Asia (EA), 310 patients (15%) were from Southeast Asia (SEA), 218 patients (10%) were from West Asia (WA), and 60 patients (3%) were from Central Asia (CA). Mean age at presentation was 27 months (median, 23 months; range, < 1-261 months). The cohort included 1195 male patients (57%) and 917 female patients (43%). The most common presenting symptoms were leukocoria (72%) and strabismus (13%). Using the American Joint Committee on Cancer Staging Manual, Eighth Edition, classification, tumors were staged as cT1 (n = 441 [16%]), cT2 (n = 951 [34%]), cT3 (n = 1136 [41%]), cT4 (n = 267 [10%]), N1 (n = 48 [2%]), and M1 (n = 129 [6%]) at presentation. Retinoblastoma was treated with intravenous chemotherapy in 1450 eyes (52%) and 857 eyes (31%) underwent primary enucleation. Three-year Kaplan-Meier estimates for enucleation and death were 33% and 13% for CA, 18% and 4% for EA, 27% and 15% for SA, 32% and 22% for SEA, and 20% and 11% for WA (P < 0.0001 and P < 0.0001), respectively.
CONCLUSIONS
At the conclusion of this study, significant heterogeneity was found in treatment outcomes of retinoblastoma among the regions of Asia. East Asia displayed better outcomes with higher rates of globe and life salvage, whereas Southeast Asia showed poorer outcomes compared with the rest of Asia.
FINANCIAL DISCLOSURE(S)
The author(s) have no proprietary or commercial interest in any materials discussed in this article.
Topics: Child; Humans; Male; Female; Infant; Child, Preschool; Retinoblastoma; Retinal Neoplasms; Prospective Studies; Antineoplastic Combined Chemotherapy Protocols; Treatment Outcome; Asia; Retrospective Studies; Eye Enucleation
PubMed: 37839559
DOI: 10.1016/j.ophtha.2023.10.015 -
Indian Journal of Ophthalmology Aug 2021
Topics: Eye Neoplasms; Humans; Retinal Neoplasms; Retinoblastoma
PubMed: 34304162
DOI: 10.4103/ijo.IJO_1801_21 -
Ophthalmic Genetics Dec 2022Cell-free DNA analysis in cancer has gone from research to widespread clinical use in the past 10 years. At Memorial Sloan Kettering Cancer Center, we developed a...
BACKGROUND
Cell-free DNA analysis in cancer has gone from research to widespread clinical use in the past 10 years. At Memorial Sloan Kettering Cancer Center, we developed a technology and test to assay cell-free DNA (cfDNA) from blood (plasma) in our retinoblastoma patients.
RESULTS
cfDNA derived from intraocular retinoblastoma can be measured and quantified in the blood (plasma) of patients. It is derived from the tumor cells themselves. Simulating lesions did not have cfDNA abnormalities. cfDNA disappears quickly after cutting the optic nerve (50% gone in 10 minutes) and if cfDNA is measurable after enucleation, metastases develop. Analysis of the buffy coat can detect germline defects including very low levels of mosaicism not detected with other NGS techniques. Analysis of the buffy coat also reveals non Rb1 germline predilections to second cancers.
CONCLUSION
Analysis of cfDNA from blood of retinoblastoma patients can be used to diagnose and manage retinoblastoma and reflect an accurate molecular profile of RB1 abnormalities of the intraocular tumor. Analysis of the germline with the buffy coat detects very low levels of mosaicism not detected with conventional methods. Liquid biopsy for retinoblastoma is already in clinical use and offers information not available with any other technique.
Topics: Humans; Retinoblastoma; Cell-Free Nucleic Acids; Retinal Neoplasms; Mutation
PubMed: 35382685
DOI: 10.1080/13816810.2021.2004433 -
American Family Physician Mar 2006Retinoblastoma, a neuroblastic tumor, is the most common primary intraocular malignancy of childhood. Patients usually present with leukokoria (white reflex or white... (Review)
Review
Retinoblastoma, a neuroblastic tumor, is the most common primary intraocular malignancy of childhood. Patients usually present with leukokoria (white reflex or white pupil), detected in primary care. The mean age at diagnosis is 12 months for bilateral tumors and 24 months for unilateral tumors. If untreated, almost all patients die of intracranial extension and disseminated disease within two years. However, new diagnostic and treatment methods allow for a high cure rate (93 percent five-year survival in the United States), therefore it is important that primary care physicians recognize the manifestations of this malignancy. Diagnosis is primarily by history and complete ophthalmic examination, with studies including ultrasonography of the eye and imaging of the orbits and brain. Treatment modalities include laser thermotherapy, cryotherapy, radioactive plaques, external beam radiotherapy, chemotherapy, and enucleation. Prospective parents with a family history of retinoblastoma should be referred for genetic counseling. Office evaluation for a red reflex in children should be performed until three years of age. If leukokoria is observed, the patient should be examined by an ophthalmologist within one week.
Topics: Combined Modality Therapy; Diagnosis, Differential; Genetic Predisposition to Disease; Humans; Prognosis; Retinal Neoplasms; Retinoblastoma
PubMed: 16570739
DOI: No ID Found -
Acta Ophthalmologica Feb 2022To determine the risk of patients with an early diagnosis of heritable retinoblastoma being diagnosed with TRb (or pineoblastoma) asynchronously in a later stage and its... (Meta-Analysis)
Meta-Analysis Review
PURPOSE
To determine the risk of patients with an early diagnosis of heritable retinoblastoma being diagnosed with TRb (or pineoblastoma) asynchronously in a later stage and its effect on screening.
METHODS
We updated the search (PubMed and Embase) for published literature as performed by our research group in 2014 and 2019. Trilateral retinoblastoma (TRb) patients were eligible for inclusion if identifiable as unique and the age at which TRb was diagnosed was available. The search yielded 97 new studies. Three new studies and eight new patients were included. Combined with 189 patients from the previous meta-analysis, the database included 197 patients. The main outcome was the percentage of asynchronous TRb in patients diagnosed before and after preset age thresholds of 6 and 12 months of age at retinoblastoma diagnosis.
RESULTS
Seventy-nine per cent of patients with pineoblastoma are diagnosed with retinoblastoma before the age of 12 months. However, baseline MRI screening at time of retinoblastoma diagnosis fails to detect the later diagnosed pineal TRb in 89% of patients. We modelled that an additional MRI performed at the age of 29 months picks up 53% of pineoblastomas in an asymptomatic phase. The detection rate increased to 72%, 87% and 92%, respectively, with 2, 3 and 4 additional MRIs.
CONCLUSIONS
An MRI of the brain in heritable retinoblastoma before the age of 12 months misses most pineoblastomas, while retinoblastomas are diagnosed most often before the age of 12 months. Optimally timed additional MRI scans of the brain can increase the asymptomatic detection rate of pineoblastoma.
Topics: Brain Neoplasms; Early Diagnosis; Humans; Infant; Magnetic Resonance Imaging; Pineal Gland; Pinealoma; Retinal Neoplasms; Retinoblastoma
PubMed: 33939299
DOI: 10.1111/aos.14855 -
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 -
Journal of Cancer Research and... 2022Retinoblastoma is the most common primary intraocular malignancy of childhood. The present study was undertaken to overcome the scarcity of data regarding the... (Review)
Review
BACKGROUND
Retinoblastoma is the most common primary intraocular malignancy of childhood. The present study was undertaken to overcome the scarcity of data regarding the epidemiology, demographic and clinical profile, and nature of the first health-care professional consulted.
MATERIALS AND METHODS
A retrospective analysis of medical records was performed for all cases of retinoblastoma who presented to the department of ophthalmology and oncology between 2010 and 2017. A total of 54 cases were reviewed.
RESULTS
Unilateral disease was seen in 85.2% while 14.8% presented with bilateral disease with a median age of 3 years and 2 years, respectively, at diagnosis. The male: female ratio was 2:1. The most common presenting symptom was leukocoria which was noticed in 42 patients (77.7%), followed by red eye (33.3%) and proptosis (20.3%). The most common stage of presentation was Stage I (44.4%), followed by Stage IV (20.4%), Stage III (9.3%), and Stage II (5.6%). The median time to diagnosis was 8.7 months (range, 0.5-98.7 months), and the median time to treatment was 37.4 days (range, 0-645 days). Majority of the patients were referred by local ophthalmologists (48%), followed by general practitioners (20%), nurses (19%), and quacks (13%). Enucleation was the most preferred treatment modality (48.1%), followed by chemotherapy (33.3%), radiotherapy (13%), photocoagulation (3.7%), and exenteration (1.9%). The overall remission rate was 79.6%, while 12.3% had relapse and 7.4% died.
CONCLUSION
The study showed a dire need for timely detection and treatment of retinoblastoma which is possible with improved awareness and better accessibility to health-care facilities. It also revealed a decrease in histopathological risk factors with chemoreduction.
Topics: Child, Preschool; Female; Humans; Male; India; Neoplasm Recurrence, Local; Neoplasms, Second Primary; Retinal Neoplasms; Retinoblastoma; Retrospective Studies
PubMed: 36412421
DOI: 10.4103/jcrt.JCRT_1263_20 -
Asia-Pacific Journal of Ophthalmology... 2017Retinoblastoma is a rare cancer in children, where in less than a century of dire mortality there has been a cure in industrialized countries. Unfortunately, mortality... (Review)
Review
Retinoblastoma is a rare cancer in children, where in less than a century of dire mortality there has been a cure in industrialized countries. Unfortunately, mortality remains high in emerging countries. The evolution of treatment makes it possible to go further by preserving the eyeball but this must not be done at the cost of the reappearance of metastases. Herein we outline the evolution of treatment from the beginning of the 20th century until the last recent evolutions, trying to imagine what could be the future treatments. In this pathology, the ophthalmologist is a doctor who must cure his patient and enucleation is considered a failure. This situation should not lead to shizophrenic situations where to keep an eye one would take risks with the life of the child. New international classifications, international prospective multicentric studies, and the search for blood biomarkers that can predict the risk of micrometastases could allow for better stratification of patients.
Topics: Combined Modality Therapy; Diagnostic Techniques, Ophthalmological; Humans; Retinal Neoplasms; Retinoblastoma
PubMed: 28558178
DOI: 10.22608/APO.201778 -
Asia-Pacific Journal of Ophthalmology... 2024Retinoblastoma, the primary ocular malignancy in pediatric patients, poses a substantial threat to mortality without prompt and effective management. The prognosis for... (Review)
Review
Retinoblastoma, the primary ocular malignancy in pediatric patients, poses a substantial threat to mortality without prompt and effective management. The prognosis for survival and preservation of visual acuity hinges upon the disease severity at the time of initial diagnosis. Notably, retinoblastoma has played a crucial role in unraveling the genetic foundations of oncogenesis. The process of tumorigenesis commonly begins with the occurrence of biallelic mutation in the RB1 tumor suppressor gene, which is then followed by a cascade of genetic and epigenetic alterations that correspond to the clinical stage and pathological features of the tumor. The RB1 gene, recognized as a tumor suppressor, encodes the retinoblastoma protein, which plays a vital role in governing cellular replication through interactions with E2F transcription factors and chromatin remodeling proteins. The diagnosis and treatment of retinoblastoma necessitate consideration of numerous factors, including disease staging, germline mutation status, family psychosocial factors, and the resources available within the institution. This review has systematically compiled and categorized the latest developments in the diagnosis and treatment of retinoblastoma which enhanced the quality of care for this pediatric malignancy.
Topics: Retinoblastoma; Humans; Retinal Neoplasms; Disease Management
PubMed: 38615905
DOI: 10.1016/j.apjo.2024.100058 -
Indian Journal of Ophthalmology Sep 2013Retinoblastoma is the most common primary intraocular malignancy of childhood. A potentially curable cancer, its treatment has improved significantly over the last few... (Review)
Review
Retinoblastoma is the most common primary intraocular malignancy of childhood. A potentially curable cancer, its treatment has improved significantly over the last few decades. The purpose of this article is to review the literature on various conservative treatment modalities available for the treatment of retinoblastoma and their effectiveness, when used alone or in combination. Pubmed, Medline, Embase, and the Cochrane library were searched through 2012 for published peer reviewed data on conservative treatment modalities for retinoblastoma. Various studies show that while enucleation remains the standard of care for advanced intraocular tumors, conservative modalities that can result in globe salvage and preservation of useful vision are being increasingly employed. Such modalities include systemic chemotherapy, focal consolidation with transpupillary thermotherapy, laser photocoagulation and cryotherapy, plaque brachytherapy, and delivery of local chemotherapy using subconjunctival, sub-tenon, or intra-arterial routes. When used alone or in combination, these treatment modalities can help in avoidance of external beam radiotherapy or enucleation, thus reducing the potential for long-term side effects, while salvaging useful vision. Radioactive plaque brachytherapy has an established role in selected patients with intraocular retinoblastoma. Local injections of chemotherapeutic agents via the sub-tenon or sub-conjunctival route have been used with varying degrees of success, usually as an adjunct to systemic chemotherapy. Intra-arterial ophthalmic artery delivery of melphalan has shown promising results. It is important to recognize that today, several treatment options are available that can obviate the need for enucleation, and cure the cancer with preservation of functional vision. A thorough knowledge and understanding of these conservative treatment modalities is essential for appropriate management.
Topics: Child; Combined Modality Therapy; Humans; Retinal Neoplasms; Retinoblastoma
PubMed: 24104705
DOI: 10.4103/0301-4738.119424