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Fetal and Pediatric Pathology Dec 2021Recently, epidemiological studies investigating the association of MTHFR 677 C > T, 1298 A > C and MTR 2756 A > G polymorphism with retinoblastoma... (Meta-Analysis)
Meta-Analysis
Association of MTHFR 677C > T, 1298A > C and MTR 2756A > G Polymorphisms with Susceptibility to Childhood Retinoblastoma: A Systematic Review and Met-Analysis.
Recently, epidemiological studies investigating the association of MTHFR 677 C > T, 1298 A > C and MTR 2756 A > G polymorphism with retinoblastoma susceptibility reported controversial results. Data were collected from several electronic databases such as PubMed, EMBASE, and Google Scholar databases, with the last search up to December 05, 2019. A total of eleven case-control studies including four studies with 324 cases and 490 controls on MTHFR 677 C > T, four studies with 324 cases and 490 controls on MTHFR 1298 A > C, and three studies with 283 cases and 485 controls on MTR 2756 A > G were selected. There was a significant association between MTHFR 677 C > T and MTR 2756 A > G polymorphisms and an increased risk of retinoblastoma. However, MTHFR 1298 A > C polymorphism was not significantly associated with risk of retinoblastoma. This meta-analysis demonstrated that MTHFR 677 C > T and MTR 2756 A > G polymorphisms might play important roles in the development of retinoblastoma. No association with MTHFR 1298 A > C polymorphism was observed.
Topics: 5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase; Case-Control Studies; Child; Genetic Predisposition to Disease; Genotype; Humans; Methylenetetrahydrofolate Reductase (NADPH2); Polymorphism, Single Nucleotide; Retinal Neoplasms; Retinoblastoma
PubMed: 32064992
DOI: 10.1080/15513815.2020.1721738 -
Clinical & Translational Oncology :... Oct 2021Intra-arterial chemotherapy is a new retinoblastoma treatment associated with high rates of globe salvage that has been widely adopted for primary treatment of...
BACKGROUND
Intra-arterial chemotherapy is a new retinoblastoma treatment associated with high rates of globe salvage that has been widely adopted for primary treatment of retinoblastoma but is less frequently used as secondary treatment for refractory retinoblastoma. This systematic review aims to summarize the reported outcomes of intra-arterial chemotherapy for refractory retinoblastoma.
METHODS
We conducted a systematic review of studies published on PubMed, Medline, and Embase from 2011 to 2021 reporting globe salvage rates following intra-arterial chemotherapy for secondary treatment of refractory retinoblastoma.
RESULTS
Our search yielded 316 studies, and 24 met inclusion criteria. The 24 included studies were comprised of 1366 patients and 1757 eyes. Among these, 1184 (67%) eyes received secondary indication treatment, and globe salvage was achieved for 776 of these 1184 eyes (64%). Sixteen studies reported cannulation success rates from 71.8 to 100%. Pooled analysis of subjects revealed 21 patients (2.6%) with metastatic disease and 26 deaths (3%) during study follow-up periods (7-74 months). The most common ocular complications were vitreous hemorrhage (13.2%), loss of eyelashes (12.7%), and periocular edema (10.5%). The most common systemic complications were nausea/vomiting (20.5%), neutropenia (14.1%), fever (8.2%), and bronchospasm (6.2%).
CONCLUSIONS
Intra-arterial chemotherapy is associated with high rates of globe salvage and low rates of serious complications in patients with refractory retinoblastoma. Unfortunately, current literature is predominantly comprised of retrospective case studies, and further high-quality evidence is necessary to inform clinical practice.
Topics: Antineoplastic Agents; Bronchial Spasm; Carboplatin; Drug Resistance, Neoplasm; Edema; Eyelashes; Febrile Neutropenia; Humans; Infusions, Intra-Arterial; Melphalan; Methotrexate; Nausea; Retinal Neoplasms; Retinoblastoma; Salvage Therapy; Topotecan; Vitreous Hemorrhage; Vomiting
PubMed: 33826082
DOI: 10.1007/s12094-021-02610-z -
JAMA Ophthalmology May 2016Intra-arterial chemotherapy has emerged as a treatment for intraocular retinoblastoma and has been quickly adopted by centers worldwide.
IMPORTANCE
Intra-arterial chemotherapy has emerged as a treatment for intraocular retinoblastoma and has been quickly adopted by centers worldwide.
OBJECTIVE
To conduct a systematic review and attempt a meta-analysis to summarize the reported outcomes of intra-arterial chemotherapy.
EVIDENCE REVIEW
In January 2015, we performed comprehensive searches in Medline, Embase, Cochrane, and Web of Science from inception through January 2015, including any peer-reviewed English-language publication that described outcomes related to toxicity or efficacy in at least 4 patients.
FINDINGS
From a total of 208 identified publications, 28 met inclusion criteria. Twelve reports with discernable nonduplicative information were included, reporting 655 patients, 757 eyes, and 2350 catheterizations. All were single-arm case series, and 67% (8 of 12) were retrospective. Across all studies, globe salvage was achieved for 502 (66%) of all eyes. Most common reported toxicities were chorioretinal atrophy and vascular occlusions. There were at least 13 reports of children with metastases. After publication, 7 additional children had metastases. The 4 different classification systems used challenged the comparison of disease severity at presentation. Visual outcome was not addressed in most studies. Meta-analyses were not possible because no study had a comparative group. Assessment of risk of bias was not possible because no validated tool for single-arm studies was available.
CONCLUSIONS AND RELEVANCE
Intra-arterial chemotherapy is a promising new treatment associated with high rates of globe salvage. However, the literature is limited by the predominance of retrospective case series, absence of comparison groups, short median follow-up, heterogeneous definitions and tumor classifications, and frequent duplicate reporting. Metastases have been observed, and long-term follow-up is needed. Until the results of clinical, prospective studies are available, it is recommended that intra-arterial chemotherapy be offered selectively among other options, with fully informed discussion about all possible risks, benefits, and uncertainties.
PubMed: 26986443
DOI: 10.1001/jamaophthalmol.2016.0244 -
Seminars in Ophthalmology 2014The purpose of this paper is to perform a systematic review of the published literature on complications of intra-arterial chemothrapy (IAC) for the treatment of... (Review)
Review
INTRODUCTION
The purpose of this paper is to perform a systematic review of the published literature on complications of intra-arterial chemothrapy (IAC) for the treatment of retinoblastoma.
MATERIALS AND METHODS
A literature search was performed using the Pubmed database using the terms. Complications were divided into extraocular and intraocular.
RESULTS
A total of 117 articles were found using this Pubmed search method; 35 articles were selected for review as they describe specifical complications of IAC for retinoblastoma. A variety of extraocular and intraocular complications were reported and discussed.
DISCUSSION
IAC for the treatment of retinoblastoma is a technique that has been gaining popularity in recent years, but is not without complications. Continued research is warranted to further improve current techniques and delivery of chemotherapeutic agents into the eye.
Topics: Antineoplastic Agents; Child, Preschool; Humans; Infant; Infusions, Intra-Arterial; Ophthalmic Artery; Retinal Neoplasms; Retinoblastoma
PubMed: 25325870
DOI: 10.3109/08820538.2014.959188 -
Medical Science Monitor : International... Dec 2008Retinoblastoma (Rb) is the most common primary malignant intraocular tumour in childhood. The "two hit" theory, formulated by Knudson in 1971 to explain the variegated... (Review)
Review
BACKGROUND
Retinoblastoma (Rb) is the most common primary malignant intraocular tumour in childhood. The "two hit" theory, formulated by Knudson in 1971 to explain the variegated clinical expression of the disease, led to the discovery of the so called tumour suppressor genes and the identification of the Rb1 as the prototype of such genes. Mutations of the Rb1 gene are now commonly believed to be the "cause" retinoblastoma, although epidemiological, clinical, and biological evidences argue against it.
MATERIAL/METHODS
The Authors have performed a systematic review of available data concerning clinical and diagnostic aspects of retinoblastoma, including molecular genetics. Meta analysis of literature data has been performed in order to validate some of the predictions made by the two hit theory.
RESULTS
The following theses are discussed in detail: 1) there is no difference in the age at diagnosis between unilateral and bilateral retinoblastoma; 2) the pathogenetic mechanisms underlying familial, hereditary, and sporadic retinoblastoma are different; 3) bilateral retinoblastoma is not necessarily hereditary; 4) The real incidence of the unilateral phenotype within the familial group is disproportionately higher than that predicted by the "two hit"; 5) retinoblastoma is most probably "caused" by the combination of epigenetic factors and aneuploidy.
CONCLUSIONS
Epidemiological, clinical, and more recent biological and genetic evidences, show that the "two hit" theory represents a rather simplistic, outdated, and unreliable model to explain tumour development and clinical evolution of retinoblastoma.
Topics: Age Factors; Humans; Infant; Mutation; Retinoblastoma
PubMed: 19043380
DOI: No ID Found -
Journal of Neurointerventional Surgery Jun 2022
Meta-Analysis
Topics: Antineoplastic Agents; Humans; Infant; Infusions, Intra-Arterial; Melphalan; Retinal Neoplasms; Retinoblastoma
PubMed: 35017205
DOI: 10.1136/neurintsurg-2021-018409 -
British Journal of Cancer Dec 2009Low cancer awareness contributes to delay in presentation for cancer symptoms and may lead to delay in cancer diagnosis. The aim of this study was to review the evidence... (Review)
Review
BACKGROUND
Low cancer awareness contributes to delay in presentation for cancer symptoms and may lead to delay in cancer diagnosis. The aim of this study was to review the evidence for the effectiveness of interventions to raise cancer awareness and promote early presentation in cancer to inform policy and future research.
METHODS
We searched bibliographic databases and reference lists for randomised controlled trials of interventions delivered to individuals, and controlled or uncontrolled studies of interventions delivered to communities.
RESULTS
We found some evidence that interventions delivered to individuals modestly increase cancer awareness in the short term and insufficient evidence that they promote early presentation. We found limited evidence that public education campaigns reduce stage at presentation of breast cancer, malignant melanoma and retinoblastoma.
CONCLUSIONS
Interventions delivered to individuals may increase cancer awareness. Interventions delivered to communities may promote cancer awareness and early presentation, although the evidence is limited.
Topics: Early Detection of Cancer; Health Education; Health Knowledge, Attitudes, Practice; Humans; Neoplasms; Randomized Controlled Trials as Topic
PubMed: 19956160
DOI: 10.1038/sj.bjc.6605388 -
The Lancet. Oncology Oct 2012Delayed diagnosis of paediatric cancers is reported regularly and is a source of remorse for physicians and parents and a leading cause of malpractice claims. We did a... (Comparative Study)
Comparative Study Review
Delayed diagnosis of paediatric cancers is reported regularly and is a source of remorse for physicians and parents and a leading cause of malpractice claims. We did a systematic review of information about the distribution, determinants, and consequences of time to diagnosis of paediatric malignancies and compared these findings with those of court-appointed expert witnesses in malpractice claims in Canada and France. Time to diagnosis varied widely between tumour types in the 98 relevant studies (medians ranged from 2-260 weeks) without any significant decrease with time. Determinants of a long delay in diagnosis included older age, qualification of the first physician contacted, non-specific symptoms, histological type, and tumour localisation. Delayed diagnosis was associated with poor outcome for retinoblastoma and possibly for leukaemia, nephroblastoma, and rhabdomyosarcoma (data were insufficient for definitive conclusions). It was not associated with an adverse outcome for most CNS tumours, osteosarcoma or Ewing's sarcoma, and, paradoxically, was frequently associated with better outcomes than was short time to diagnosis in these cancers. A third of the court-appointed experts provided testimony concordant with the medical literature. The relations between delay in diagnosis and outcome are complex and probably depend more on tumour biology than on parental or medical factors.
Topics: Child; Delayed Diagnosis; Expert Testimony; Humans; Malpractice; Neoplasms; Time Factors
PubMed: 23026830
DOI: 10.1016/S1470-2045(12)70361-3 -
Neuroradiology Apr 2021Preoperative MRI detection of post-laminar optic nerve invasion (PLONI) offers guidance in assessing the probability of total tumor resection, an estimation of the... (Meta-Analysis)
Meta-Analysis
PURPOSE
Preoperative MRI detection of post-laminar optic nerve invasion (PLONI) offers guidance in assessing the probability of total tumor resection, an estimation of the extent of surgery, and screening of candidates for eye-preserving therapies or neoadjuvant chemotherapies in the patients with retinoblastoma (RB). The purpose of this systematic review and meta-analysis was to evaluate the diagnostic performance of MRI for detecting PLONI in patients with RB and to demonstrate the factors that may influence the diagnostic performance.
METHODS
Ovid-MEDLINE and EMBASE databases were searched up to January 11, 2020, for studies identifying the diagnostic performance of MRI for detecting PLONI in patients with RB. The pooled sensitivity and specificity of all studies were calculated followed by meta-regression analysis.
RESULTS
Twelve (1240 patients, 1255 enucleated globes) studies were included. The pooled sensitivity was 61%, and the pooled specificity was 88%. Higgins I statistic demonstrated moderate heterogeneity in the sensitivity (I = 72.23%) and specificity (I = 78.11%). Spearman correlation coefficient indicated the presence of a threshold effect. In the meta-regression, higher magnetic field strength (3 T than 1.5 T), performing fat suppression, and thinner slice thickness (< 3 mm) were factors causing heterogeneity and enhancing diagnostic power across the included studies.
CONCLUSIONS
MR imaging was demonstrated to have acceptable diagnostic performance in detecting PLONI in patients with RB. The variation in the magnetic field strength and protocols was the main factor behind the heterogeneity across the included studies. Therefore, there is room for developing and optimizing the MR protocols for patients with RB.
Topics: Humans; Magnetic Resonance Imaging; Neoplasm Invasiveness; Optic Nerve; Retinal Neoplasms; Retinoblastoma; Sensitivity and Specificity
PubMed: 32865636
DOI: 10.1007/s00234-020-02538-1 -
Critical Reviews in Oncology/hematology Jun 2024Intravitreal chemotherapy is used as a salvage therapy for retinoblastoma with persistent or recurrent vitreous seeding after primary treatment. To assess the safety of... (Review)
Review
Intravitreal chemotherapy is used as a salvage therapy for retinoblastoma with persistent or recurrent vitreous seeding after primary treatment. To assess the safety of this technique, we conducted a systematic review of all studies reporting ocular toxicity data. Forty-eight trials involving 2751 eyes were included. The most common complications were cataract, retinal toxicity, and vitreous hemorrhage. However, severe and permanent adverse events were limited, while the risk of extraocular dissemination, a significant concern, was practically eliminated through preventive techniques. Globe salvage rates ranged from 29 % to 100 %. In conclusion, intravitreal chemotherapy seems to improve prognosis of eyes with advanced disease, with an acceptable safety profile. Nevertheless, most relevant studies are retrospective, and no randomized trials have been performed. Recognizing the challenges regarding the conduct of randomized studies for such a rare pediatric cancer, we believe that multicenter trials through international collaborations can significantly enhance the available information.
PubMed: 38897313
DOI: 10.1016/j.critrevonc.2024.104423