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Ophthalmology Jun 2022
Topics: Humans; Retina; Retinal Neoplasms; Retinoblastoma; Tomography, Optical Coherence
PubMed: 35598905
DOI: 10.1016/j.ophtha.2021.11.012 -
Knowledge, experiences and attitudes concerning genetics among retinoblastoma survivors and parents.European Journal of Human Genetics :... Apr 2018Clinical genetic services are increasingly providing a more nuanced understanding of genetic disease diagnostics and future risk for patients. Effectively conveying...
Clinical genetic services are increasingly providing a more nuanced understanding of genetic disease diagnostics and future risk for patients. Effectively conveying genetic information is essential for patients to make informed decisions. This is especially important for survivors of heritable cancers such as retinoblastoma (childhood eye cancer), where survivors who carry a germline mutation in the RB1 gene are at increased risk of second cancers in adulthood, and of passing on the disease risk to future offspring. We conducted focus groups with adult survivors of retinoblastoma and parents of children with retinoblastoma, to uncover their knowledge of, experiences with and attitudes about retinoblastoma genetics and related impacts of the cancer. Results revealed that participants understood that retinoblastoma was a genetic disease, but often misunderstood the implications of genetics on cancer phenotype and risk. Experiences with genetic testing and counseling were generally positive, however, participants reported challenges in accessing genetic information and psychosocial support. Participants suggested more educational resources, peer-to-peer counseling, and psychosocial support would enhance uptake of important genetic information. The results of the study will inform patient-oriented approaches to deliver comprehensive genetic healthcare.
Topics: Adolescent; Adult; Female; Genetic Counseling; Genetic Predisposition to Disease; Health Knowledge, Attitudes, Practice; Humans; Male; Middle Aged; Parents; Patients; Retinal Neoplasms; Retinoblastoma
PubMed: 29379195
DOI: 10.1038/s41431-017-0027-9 -
International Journal of Environmental... Jun 2021: The present study aimed to investigate the incidence and characteristics of retinoblastoma in the overall population of Poland. : The retrospective survey of both...
: The present study aimed to investigate the incidence and characteristics of retinoblastoma in the overall population of Poland. : The retrospective survey of both National Health Fund (NHF) and National Cancer Registry (NCR) databases were performed to identify all retinoblastoma cases in Poland in the years 2010-2017. : During 2010-2017, the mean age-standardised incidence of retinoblastoma (the unit of incidence is per 1,000,000 person-years) was 10.15 (95% CI 7.23-13.08) among children aged 0 to 4 years and 5.39 (95% CI 4.18-6.60) in those aged 0 to 9 years. During 2010-2014 (to allow 5 years of follow-up), the mean incidence of retinoblastoma by birth cohort analysis in Poland was 4.89 (95% CI 4.04-5.74) per 100,000 live births, corresponding to an incidence of 1 per 20,561 (95% CI 15,855-25,267) live births. In Poland, 14.6% of children with retinoblastoma had enucleation of the eye globe, 76.8% received different types of chemotherapy combined with focal treatment, 5.9% were treated with external beam radiotherapy, and 2.7% were treated with focal treatments only. : The incidence of retinoblastoma and the pattern of medical management of retinoblastoma in Poland was similar to that reported in developed countries in Western Europe, Asia, and North America.
Topics: Asia; Child; Europe; Humans; Incidence; Infant; North America; Poland; Retinal Neoplasms; Retinoblastoma; Retrospective Studies
PubMed: 34204493
DOI: 10.3390/ijerph18126539 -
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 Feb 2023To evaluate the efficacy of secondary and salvage intra-arterial chemotherapy (IAC) as a globe salvage treatment modality in advanced and refractory intraocular...
PURPOSE
To evaluate the efficacy of secondary and salvage intra-arterial chemotherapy (IAC) as a globe salvage treatment modality in advanced and refractory intraocular retinoblastoma.
METHODS
A retrospective chart review of advanced intraocular retinoblastoma (groups D and E International Classification of Retinoblastoma [ICRB] classification) patients refractory to intravenous chemotherapy (IVC) and undergoing IAC as the secondary and salvage treatment modality between December 2018 and June 2021 was carried out. All patients underwent the IAC procedure by super-selective ophthalmic artery catheterization and with triple-drug chemotherapeutic agents of melphalan, topotecan, and carboplatin. Data were collected about tumor regression, eye salvage, metastasis, and survival outcome at follow-up.
RESULTS
Out of 13 patients, 12 patients received secondary IAC after being primarily treated with IVC and focal therapies and one patient received rescue IAC after recurrence following primary IAC. Mean number of IAC cycles administered was 2. Overall, globe salvage rate was 53.84%, with a mean follow-up of 17.53 months (range 6-37 months), three patients had enucleation for residual tumor or tumor recurrence. One patient developed metastasis post enucleation and two patients who were lost to follow-up after enucleation advice for residual tumor developed orbital tumor extension and eventually died of metastasis.
CONCLUSION
Secondary triple-drug IAC following failure of IVC, along with other adjunct treatment modalities might a be a cost-effective option for eye salvage in advanced intraocular retinoblastoma patients who refuse enucleation, with a globe salvage rate of 53.84%. It can also be an effective approach to improve treatment compliance and can help in addressing the barrier of treatment refusal when enucleation is advised.
Topics: Humans; Infant; Retinoblastoma; Retinal Neoplasms; Retrospective Studies; Neoplasm, Residual; Treatment Outcome; Antineoplastic Combined Chemotherapy Protocols; Infusions, Intra-Arterial; Neoplasm Recurrence, Local; Melphalan
PubMed: 36727336
DOI: 10.4103/ijo.IJO_1388_22 -
Eye (London, England) Jan 2022To determine the association between the parental age gap and the absolute parental age with the risk of retinoblastoma (RB) development in an offspring.
OBJECTIVE
To determine the association between the parental age gap and the absolute parental age with the risk of retinoblastoma (RB) development in an offspring.
METHODS
RB individuals diagnosed between March 2013 and December 2019 in a single tertiary eye care centre were included. We recorded the demographic data, parental age and RB1 gene mutation status in the patient's tumour, blood and the parental blood. We categorised RB1 mutation inheritance as sporadic RB with somatic mutations (only present in tumour), heritable RB with de novo (present in patient's blood) and familial (present in patient and parents' blood) germline mutations. The statistical significance was confirmed by Fisher's exact/Chi-square test.
RESULTS
Out of 259 RB patients, 247 were included in our study. Heritable RB with de novo germline mutations was significantly less common (p value: 0.0387; 95% CI: 0.2676-0.9329) and sporadic RB with somatic mutations was more common (p value: 0.0545; 95% CI: 1.025-3.39), if the parental age gap was <10 years. There were increased odds of a heritable RB with de novo germline mutation with an increase in paternal age and this was more intensified when combined with parental age gap of more than ≥10 years. The heritable RB with de novo germline mutations significantly increased as maternal age progressed, only when it was adjusted to ≥10 years parental age gap (p value: 0.0262; 95% CI: 1.26-17.91).
CONCLUSIONS
An increased parental age gap and increased paternal age are independent risk factors for the development of heritable RB with de novo germline mutation.
Topics: Child; Demography; Humans; Mutation; Parents; Retinal Neoplasms; Retinoblastoma; Retrospective Studies
PubMed: 34799705
DOI: 10.1038/s41433-021-01771-z -
Asia-Pacific Journal of Ophthalmology... 2024Retinoblastoma stands as a paradigm of success in treating malignancies among pediatric patients. Over recent decades, the approach to managing retinoblastoma has... (Review)
Review
Retinoblastoma stands as a paradigm of success in treating malignancies among pediatric patients. Over recent decades, the approach to managing retinoblastoma has evolved significantly, transitioning from the preservation of patients' lives to the preservation of eyes and vision while minimizing treatment-related complications. Chemotherapy, administered through diverse routes, has solidified its role as the cornerstone of retinoblastoma treatment. In addition to intravenous chemotherapy (IVC), alternative administration routes, including intraarterial (IAC), intravitreal, intracameral, and periocular delivery, have emerged as promising modalities for retinoblastoma management. Numerous studies have demonstrated outstanding outcomes, achieving nearly 100% salvage rates for eyes classified under groups A-C. However, for advanced intraocular retinoblastoma (groups D and E eyes), IAC appears to offer superior local control rates compared to IVC. Intravitreal injection of chemotherapeutic agents, when administered in a controlled and secure manner, holds promise in averting the need for enucleation and radiotherapy in advanced retinoblastoma cases presenting with vitreous seeds. The optimal chemotherapy strategy remains meticulously tailored based on numerous factors. This review provides a comprehensive update on chemotherapy across various routes, encompassing key considerations, dosages, administration methods, treatment outcomes, and potential complications. Furthermore, it explores emerging potential treatments and outlines future directions aimed at enhancing treatment outcomes.
Topics: Retinoblastoma; Humans; Retinal Neoplasms; Antineoplastic Agents; Intravitreal Injections
PubMed: 38641204
DOI: 10.1016/j.apjo.2024.100061 -
The Cochrane Database of Systematic... Jun 2017Retinoblastoma is the most common primary intraocular malignancy of childhood. Systemic chemotherapy is a common treatment for intraocular retinoblastoma, and laser... (Review)
Review
BACKGROUND
Retinoblastoma is the most common primary intraocular malignancy of childhood. Systemic chemotherapy is a common treatment for intraocular retinoblastoma, and laser treatment is used as adjuvant therapy during or immediately after chemotherapy courses in selected cases.
OBJECTIVES
To compare the effectiveness and safety of adding focal laser therapy to systemically-delivered chemotherapy in treating intraocular retinoblastoma.
SEARCH METHODS
We searched the Cochrane Central Register of Controlled Trials (CENTRAL) (which contains the Cochrane Eyes and Vision Trials Register) (2016, Issue 9), MEDLINE Ovid (1946 to 20 October 2016), Embase Ovid (1980 to 20 October 2016), LILACS (Latin American and Caribbean Health Sciences Literature Database) (1982 to 20 October 2016), the ISRCTN registry (www.isrctn.com/editAdvancedSearch); searched 20 October 2016, ClinicalTrials.gov (www.clinicaltrials.gov); searched 20 October 2016, and the World Health Organization (WHO) International Clinical Trials Registry Platform (ICTRP) (www.who.int/ictrp/search/en); searched 20 October 2016. We did not use any date or language restrictions in the electronic searches for trials.
SELECTION CRITERIA
We searched for randomised controlled trials (RCTs) of systemic chemotherapy with versus without adjuvant laser therapy for postequatorial retinoblastoma.
DATA COLLECTION AND ANALYSIS
We planned to use standard methodological procedures expected by Cochrane. We planned to meta-analyse the primary outcome, that is the proportion of eyes with recurrence of tumours within three years from treatment MAIN RESULTS: No studies met the inclusion criteria for this review.
AUTHORS' CONCLUSIONS
No evidence from randomised controlled trials was found to support or refute laser therapy in addition to systemic chemotherapy for postequatorial retinoblastoma.
Topics: Combined Modality Therapy; Humans; Laser Therapy; Retinal Neoplasms; Retinoblastoma
PubMed: 28589646
DOI: 10.1002/14651858.CD012366.pub2 -
Pediatric Blood & Cancer Feb 2023Retinoblastoma is the most common intraocular childhood cancer and is typically diagnosed in young children. With increasing number of survivors and improved medical...
BACKGROUND
Retinoblastoma is the most common intraocular childhood cancer and is typically diagnosed in young children. With increasing number of survivors and improved medical outcomes, long-term psychosocial impacts need to be explored. Thus, the current study sought to assess functioning in school-aged survivors of retinoblastoma.
PROCEDURE
Sixty-nine survivors of retinoblastoma underwent a one-time evaluation of psychosocial functioning. Survivors (M = 10.89 years, SD = 1.07 years; 49.3% male; 56.5% unilateral disease) and parents completed measures of quality of life (QoL; PedsQL) and emotional, behavioral, and social functioning (PROMIS [patient-reported outcome measurement information system] Pediatric Profile, BASC-2 parent report). Demographic and medical variables were also obtained.
RESULTS
On the whole, both survivors and caregivers indicated QoL and behavioral and emotional health within the typical range of functioning. Survivors reported better physical QoL compared to both parent report and a national healthy comparison sample, whereas caregivers reported that survivors experienced lower social, school, and physical QoL than a healthy comparison. Regarding behavioral and emotional health, survivors indicated more anxiety than a nationally representative sample. Parents of female survivors endorsed lower adaptive scores than parents of male survivors.
CONCLUSIONS
Results indicated that survivors of retinoblastoma reported QoL and behavioral and emotional health within normal limits, although parents appear to perceive greater impairment across several assessed domains. Understanding both survivor and parent reports remains important for this population. Future research should explore psychosocial functioning of these survivors as they transition to adolescence and early adulthood, given the increased independence and behavioral and emotional concerns during these developmental periods.
Topics: Adolescent; Humans; Male; Child; Female; Child, Preschool; Adult; Retinoblastoma; Quality of Life; Survivors; Health Status; Retinal Neoplasms; Surveys and Questionnaires
PubMed: 36385462
DOI: 10.1002/pbc.29983 -
Molecular Biology of the Cell Dec 2021Few ideas in cancer genetics have been as influential as the "two-hit" theory of tumor suppressors. This idea was introduced in 1971 by Al Knudson in a paper in the...
Few ideas in cancer genetics have been as influential as the "two-hit" theory of tumor suppressors. This idea was introduced in 1971 by Al Knudson in a paper in the Proceedings of the National Academy of Science and forms the basis for our current understanding of the role of mutations in cancer. In this theoretical discussion proposing a genetic basis for retinoblastoma, a childhood cancer of the retina, Knudson posited that these tumors arise from two inactivating mutations, targeting both alleles of a putative tumor suppressor gene. While this work built on earlier proposals that cancers are the result of mutations in more than one gene, it was the first to propose a plausible mechanism by which single genes that are affected by germ-line mutations in heritable cancers could also cause spontaneous, nonheritable tumors when mutated in somatic tissues. Remarkably, Knudson described the existence and properties of a retinoblastoma tumor suppressor gene a full 15 years before the gene was cloned.
Topics: Animals; Genes, Tumor Suppressor; Haploinsufficiency; Humans; Mice; Mutation; Neoplasms; Retinal Neoplasms; Retinoblastoma
PubMed: 34735271
DOI: 10.1091/mbc.E21-08-0407