AIM:To provide a comprehensive and more representative national data on the disease,especially on treatment options and outcomes,and to determine access of retinoblastoma patients from Luzon,Visayas and Mindanao to ey...AIM:To provide a comprehensive and more representative national data on the disease,especially on treatment options and outcomes,and to determine access of retinoblastoma patients from Luzon,Visayas and Mindanao to eye care,and determine if access is associated with delay in consultation,staging and outcomes.METHODS:Cohort study of retinoblastoma patients seen in eleven institutions located in the three major areas of the Philippines namely Luzon,Vizayas and Mindanao from 2010-2020.RESULTS:Totally 636 patients,involving 821 eyes,were included.Majority(57%)were from Luzon and were seen in institutions in Luzon(72%).Annually,58±10 new cases were seen with 71%having unilateral disease.Median delay of consultation remained long at 9(3,17)mo,longest in patients with unilateral disease(P<0.02)and those from the Visayas(P<0.003).Based on the International Retinoblastoma Staging System,only 35%of patients had Stage 1 while 47%already had extraocular disease.Enucleation was the most common treatment received by 484 patients while intravenous chemotherapy was received by 469.There were 250(39%)patients alive,195(31%)dead,85(13%)abandoned,17(3%)refused and 89(14%)with no data.CONCLUSION:This study presents the largest cohort of retinoblastoma patients in the Philippines in terms of patients’and participating institutions’number and geographical location and type of institution(private and public).It also presents more comprehensive data on the treatments used and outcomes(survival,globe salvage,and vision retention rates).Delay in consultation was still long among patients leading to advanced disease stage and lower survival rate.Despite increasing capacity to diagnose and manage retinoblastoma in the country,the delay of consultation remains long primarily due to accessibility issues to eye care institutions especially in the Visayas and financial concerns.The delay was still significant that overall survival rate remain low.展开更多
Objective Retinoblastoma(RB)is a prevalent type of eye cancer in youngsters.Prospero homeobox 1(Prox1)is a homeobox transcriptional repressor and downstream target of the proneural gene that is relevant in lymphatic,h...Objective Retinoblastoma(RB)is a prevalent type of eye cancer in youngsters.Prospero homeobox 1(Prox1)is a homeobox transcriptional repressor and downstream target of the proneural gene that is relevant in lymphatic,hepatocyte,pancreatic,heart,lens,retinal,and cancer cells.The goal of this study was to investigate the role of Prox1 in RB cell proliferation and drug resistance,as well as to explore the underlying Notch1 mechanism.Methods Human RB cell lines(SO-RB50 and Y79)and a primary human retinal microvascular endothelial cell line(ACBRI-181)were used in this study.The expression of Prox1 and Notch1 mRNA and protein in RB cells was detected using quantitative real time-polymerase chain reaction(RT-qPCR)and Western blotting.Cell proliferation was assessed after Prox1 overexpression using the Cell Counting Kit-8 and the MTS assay.Drug-resistant cell lines(SO-RB50/vincristine)were generated and treated with Prox1 to investigate the role of Prox1 in drug resistance.We employed pcDNA-Notch1 to overexpress Notch1 to confirm the role of Notch1 in the protective function of Prox1.Finally,a xenograft model was constructed to assess the effect of Prox1 on RB in vivo.Results Prox1 was significantly downregulated in RB cells.Overexpression of Prox1 effectively decreased RB cell growth while increasing the sensitivity of drug-resistant cells to vincristine.Notch1 was involved in Prox1’s regulatory effects.Notch1 was identified as a target gene of Prox1,which was found to be upregulated in RB cells and repressed by increased Prox1 expression.When pcDNA-Notch1 was transfected,the effect of Prox1 overexpression on RB was removed.Furthermore,by downregulating Notch1,Prox1 overexpression slowed tumor development and increased vincristine sensitivity in vivo.Conclusion These data show that Prox1 decreased RB cell proliferation and drug resistance by targeting Notch1,implying that Prox1 could be a potential therapeutic target for RB.展开更多
Background: Retinoblastoma, the most common intraocular pediatric cancer, presents complexities in its genetic landscape that necessitate a deeper understanding for improved therapeutic interventions. This study lever...Background: Retinoblastoma, the most common intraocular pediatric cancer, presents complexities in its genetic landscape that necessitate a deeper understanding for improved therapeutic interventions. This study leverages computational tools to dissect the differential gene expression profiles in retinoblastoma. Methods: Employing an in silico approach, we analyzed gene expression data from public repositories by applying rigorous statistical models, including limma and de seq 2, for identifying differentially expressed genes DEGs. Our findings were validated through cross-referencing with independent datasets and existing literature. We further employed functional annotation and pathway analysis to elucidate the biological significance of these DEGs. Results: Our computational analysis confirmed the dysregulation of key retinoblastoma-associated genes. In comparison to normal retinal tissue, RB1 exhibited a 2.5-fold increase in expression (adjusted p Conclusions: Our analysis reinforces the critical genetic alterations known in retinoblastoma and unveils new avenues for research into the disease’s molecular basis. The discovery of chemoresistance markers and immune-related genes opens potential pathways for personalized treatment strategies. The study’s outcomes emphasize the power of in silico analyses in unraveling complex cancer genomics.展开更多
Retinoblastoma is caused by mutational inactivation of both alleles of the RB1 gene, which maps to chromosome 13 q14 and encodes retinoblastoma protein that acts as a tumor suppressor. Histopathological high-risk feat...Retinoblastoma is caused by mutational inactivation of both alleles of the RB1 gene, which maps to chromosome 13 q14 and encodes retinoblastoma protein that acts as a tumor suppressor. Histopathological high-risk features of retinoblastoma are predictive of metastasis or local recurrence. The focus of this update is to emphasize the recent advances in pathology, various molecular key pathways and genome wide approaches for newer potential therapeutic future targets associated with retinoblastoma tumor biology. This review article highlights the new biomarkers expressed by the retinoblastoma tumor for the better survival of patients.展开更多
AIMTo study eyes with extraocular dissemination (EORB), with the following aims: first to establish the mean lag period and to understand various reasons for delayed presentation, second to study their imaging profile...AIMTo study eyes with extraocular dissemination (EORB), with the following aims: first to establish the mean lag period and to understand various reasons for delayed presentation, second to study their imaging profiles and third to analyze histopathological features of eyes enucleated after neoadjuvant chemotherapy.展开更多
A study was conducted to see the association of retinoblastoma with age, bilaterism, Tumor size, site, grades, involvement of anterior chamber, iris, ciliary body, choroid, sclera and optic nerve, and extraocular exte...A study was conducted to see the association of retinoblastoma with age, bilaterism, Tumor size, site, grades, involvement of anterior chamber, iris, ciliary body, choroid, sclera and optic nerve, and extraocular extension. This was a retrospective descriptive analytical study. The records of the Institute of Ophthalmology, King Edward Medical University/Mayo hospital, Lahore: Pakistan January 2006-Dec 2011 was analyzed. Five years biopsies (June 2006 to June 2012) of the retinoblastoma, from the Pathology department, was retrieved to see optic nerve involvement in all the retrieved specimens. The mean age was 3.54 ± 1.686 years. There were 15 cases of bilateral retinoblastoma and 37 cases with unilateral neoplasms. The age range of bilateral tumors was 2 - 6 years while the range in unilateral tumor was 1 - 10 years male to female ratio was 1:1.5. Among 52 cases, 37 (71.2%) patients were unilateral retinoblastoma and 15 (28.28%) patients were with bilateral disease. On radiological examination of patients suffering from retinoblastoma by B-Scan (Ultrasound), there were 33 (63.5%) cases with exophytic presentation while 18 (34.6%) cases showed endophytic morphology. On clinical examinations, 28 patients presented with proptosis of (it was the most common presenting sign in our patients, accounting for about 53.8% of cases), 20 cases presented with leucocoria eye with strabismus. 29/52 patients showed involvement with optic nerve, 17 were from 1 - 3 years age and 12 were from 4 - 6 years. Statistically there was no difference in the involvement of optic nerve, disc involvement and extra ocular extension with the age of patients (p = 0.217). There was also no statistical difference seen in age and gender for but a strong association was seen with patient’s presentation, symptoms and size of the tumors and anterior chamber, iris, ciliary body, choroid, sclera and optic nerve, and extra ocular extension. We concluded that a positive association was seen with tumor size and tumor extension (optic nerve, and extraocular extension). No Association was seen with age, gender and laterality of the tumors.展开更多
Dear Editor,Iam Di: Jinho Lee from the Department of Ophthalmology, Seoul National University Hospital, Seoul, Korea. I am writing to present five case series of intraocular medulloepithelioma. Medulloepitheliomas are...Dear Editor,Iam Di: Jinho Lee from the Department of Ophthalmology, Seoul National University Hospital, Seoul, Korea. I am writing to present five case series of intraocular medulloepithelioma. Medulloepitheliomas are the second most common type of pediatric intraocular tumors. They display clinical characteristics similar to retinoblastomas, such as leukocorias and intraocular endophytic masses, and are extremely difficult to clinically differentiate from retinoblastomas.展开更多
·AIM: To collect and present updated evidence about epidemiological aspects of retinoblastoma(Rb) in the world.·METHODS: A comprehensive search without the time and language restrictions was conducted in int...·AIM: To collect and present updated evidence about epidemiological aspects of retinoblastoma(Rb) in the world.·METHODS: A comprehensive search without the time and language restrictions was conducted in international databases, including MEDLINE, Scopus, Web of Science, and Pub Med. The search keywords were “retinoblastoma” OR “retinal Neuroblastoma” OR “retinal glioma” OR “retinoblastoma eye cancer” OR “retinal glioblastoma”.·RESULTS: The worldwide incidence of Rb is 1 in 16 000-28 000 live births, but was higher in developing compared to developed countries. Several attempts for improving early detection and treatment had increased the Rb survival rate from 5% to 90% in developed countries over the past decade, but its survival was lower in developing countries(about 40% in low-income countries) and the majority of mortalities occurred in developing countries. The etiology of Rb could be viewed as genetics in the heritable form and environmental and lifestyle factors in the sporadic form. Some environmental risk factors such as in vitro fertilization;insect sprays;father’s occupational exposure to oil mists in metal working, and poor living conditions might play a role in the occurrence of the disease. Although ethnicity might affect Rb incidence, sex has no documented effect and the best treatment approaches were now ophthalmic artery chemosurgery and intravitreal chemotherapy.·CONCLUSION: Determining the role of genetics and environmental factors helps to accurately predict the prognosis and identify the mechanism of the disease, which can reduce the risk of tumor development.展开更多
AIM:To describe and compare pathologic findings in eyes enucleated after superselective ophthalmic arterial chemotherapy(SOAC)or SOAC with intravenous chemotherapy(IVC)for retinoblastoma.METHODS:Medical records betwee...AIM:To describe and compare pathologic findings in eyes enucleated after superselective ophthalmic arterial chemotherapy(SOAC)or SOAC with intravenous chemotherapy(IVC)for retinoblastoma.METHODS:Medical records between January 1st,2014 and June 30th,2017 were retrospectively analyzed,and pathologic findings were recorded.This study included 36 eyes from 22(61.1%)male and 14(38.9%)female patients.Nineteen of 36(52.8%)eyes received SOAC(mean=3,range=1-7)as primary treatment,and 17 of 36(47.2%)eyes received SOAC(mean=3.7,range=1-10)after IVC(mean=6.1,range=2-11).Tumor extension including choroidal invasion(n=9,25%),optic nerve invasion(n=5,13.9%)and anterior segment invasion(n=5,13.9%)were recorded.RESULTS:Histopathologic evidence of ischemic damage in the retina and choroid was found in 28(77.8%)eyes.Thrombosed blood vessels were identified in 9(25%)eyes,including orbital artery in the retrobulbar orbit(n=1),intrascleral vessels(n=4),and chorioretinal vessels(n=6).Fibrotic changes were found in extraocular muscles(n=5,13.9%)and optic nerve(n=5,13.9%).Varying degrees of scleral degeneration were found in all eyes.In statistical analysis,there was no significant difference in clinical and pathologic changes between SOAC group and SOAC with IVC group except for optic nerve invasion(P=0.047).CONCLUSION:SOAC for retinoblastoma can result in ocular toxicity,and SOAC with IVC do not increase the toxicity but reduced the incidence of optic nerve invasion.展开更多
AIM:To investigate the impact of lag time to metastasis and survival rates among patients with retinoblastoma.METHODS:This retrospective study was conducted with 52 patients from the Department of Ophthalmology and th...AIM:To investigate the impact of lag time to metastasis and survival rates among patients with retinoblastoma.METHODS:This retrospective study was conducted with 52 patients from the Department of Ophthalmology and the Department of Pediatrics of Dr.Sardjito General Hospital,between 1^(st) January 2014 and 31^(st) December 2020.Lag time was defined as the time delay between the first sign of retinoblastoma to the diagnosis of retinoblastoma.The subjects with lag time>one year were included in the case group,while the subjects with lag time<one year were included in the control group.RESULTS:The lag time was significantly correlated with American Joint Committee on Cancer and Intraocular Classification of Retinoblastoma staging of retinoblastoma(P=0.005 and P=0.006,respectively).The lag time was also significantly correlated with both metastasis event[odds ratio(OR):5.06,95%Cl:1.56-16.44,P=0.006]and mortality(OR:4.54,95%Cl:1.37-15.07,P=0.011).The follow-up was continued for 32 subjects for 3y after initial diagnoses.Survival analysis revealed a significant difference among these two groups(P=0.021).Furthermore,lag time was significantly correlated with survival of retinoblastoma(r=-0.53,P=0.046).CONCLUSION:The study highlights the importance of lag time between the onset of first symptoms and the time of retinoblastoma diagnosis which significantly contribute to metastasis and mortality of patients with retinoblastoma.Examinations for the early detection of retinoblastoma should be performed for individuals at-risk to minimize lag time and improve the outcomes.展开更多
Retinoblastoma (Rb) was reported firstly by Benedict is the commonest pediatric intraocular malignant tumor in children younger than 5 years of age. The study was conducted to detect the RB-1 gene for prognostic evalu...Retinoblastoma (Rb) was reported firstly by Benedict is the commonest pediatric intraocular malignant tumor in children younger than 5 years of age. The study was conducted to detect the RB-1 gene for prognostic evaluation in retinoblastoma and to see the frequency of RB-1 gene in our population. This was a retrospective descriptive analytical study. Five years biopsies (January, 2006 to December 2011) of the retinoblastoma, from the Pathology department, was retrieved to see optic nerve involvement in all the retrieved specimens. The study was taken to see the mutation of RB1 gene by immunohistochemistry and PCR. The study plan was approved from Institutional Review Board (IRB) of the University. All the cases showed positivity of abnormal Rb-1 gene proteins expression by Immunohistochemistry staining. On PCR, 51/52 (98%) tumors expressed gene mutation as compared to 100% expression shown by IHC. Out of these, 28/51 (55%) cases showed ONI and ODI with positivity for mutated RB gene. A positive association was seen among RB gene mutation with ONI and ODI (p = 0.05). There were 33/51 (65%) cases who did not show any EOE but showed PCR positivity for RB gene mutation. While there were 18/51 (35%) cases who showed EOE and positivity of PCR for Rb-1 gene mutation and a positive association was seen with EOE and gene mutation (p = 0.005). The most common sequence of mutation was on 13 with 33 cases for double mutation, 12 cases for single and 6 patients for triple pattern of mutation. Most of the double and triple sequences of mutations were associated with ONI, ODI and EOE. We concluded that mutation of RB-1 gene is responsible in causation of the tumors with a positive association with tumor size and tumor extension (optic nerve, and extraocular extension), and mutation affects patients with all ages, both gender and unilateral and bilateral tumors.展开更多
AIM:To assess the clinical and genetic characteristics of children diagnosed with retinoblastoma(RB)at Gazi University Faculty of Medicine’s Department of Pediatric Oncology.METHODS:All cases diagnosed with RB and re...AIM:To assess the clinical and genetic characteristics of children diagnosed with retinoblastoma(RB)at Gazi University Faculty of Medicine’s Department of Pediatric Oncology.METHODS:All cases diagnosed with RB and received treatment and follow-up in the Ophthalmology and Pediatric Oncology Department,October 2016 to May 2021 were evaluated retrospectively.The RB1 gene was analyzed by next-generation sequencing(NGS)technique in DNAs obtained from peripheral blood samples of the patients.RESULTS:This study included 53 cases with 67 RBaffected eyes during the study period.The mean age was 24.6(median:18.5,range:3–151)mo.There were 15(22.3%)Group D eyes and 39(58.2%)Group E eyes.The RB1 gene was sequenced by the NGS method in 19 patients.Heterozygous RB1:NM_000321.3:c.54_76del(p.Glu19AlafsTer4)variant was detected in a 15-month-old female with bilateral RB.Heterozygous RB1:NM_000321.3:c.1814+3A>T variant was detected in a 5.5-month-old male with bilateral RB.The intronic RB1:NM_000321.3:c.1332+4A>G variant was detected in patient 14,a 13-month-old male with unilateral RB.The RB1:NM_000321.3:c.575_576del(p.Lys192SerfsTer10)variant was found in an 18-month-old female with an allele frequency of 37%.These variants have not been reported in the literature and mutation databases.CONCLUSION:Four novel variants are described and one of them is found in two different patients.This data is crucial for assessing prognosis.It serves as a guide for estimating the long-term risk of secondary malignancy as well as the short-term risk of developing additional malignancies in the same eye and the other eye.展开更多
The Retinoblastoma 1 (RB1) gene, located on chromosome 13q14 and encodes the tumor-suppressor retinoblastoma protein, is the cause of Retinoblastoma. The mutational inactivation of both gene alleles brings on this can...The Retinoblastoma 1 (RB1) gene, located on chromosome 13q14 and encodes the tumor-suppressor retinoblastoma protein, is the cause of Retinoblastoma. The mutational inactivation of both gene alleles brings on this cancer. Retinoblastoma (RB) high-risk histopathological characteristics indicate metastasis or local recurrence with rapid progresses following RB1 inactivation. There is growing interest in regulatory activities unconnected to the coding region of the genome, or exome, in addition to epigenetic control mechanisms. The altered epigenome is significant, though by no means the only, problem in the etiology of Retinoblastoma. After all, cancer development is a multistep process in which numerous dissimilar genetic, epigenetic, and posttranscriptional modifications result in a shared phenotype. This study emphasizes the most recent developments in posttranscriptional change and epigenetics related to retinoblastoma tumor biology. Here, we highlight the novel biomarkers the retinoblastoma tumor has expressed to improve patient survival.展开更多
文摘AIM:To provide a comprehensive and more representative national data on the disease,especially on treatment options and outcomes,and to determine access of retinoblastoma patients from Luzon,Visayas and Mindanao to eye care,and determine if access is associated with delay in consultation,staging and outcomes.METHODS:Cohort study of retinoblastoma patients seen in eleven institutions located in the three major areas of the Philippines namely Luzon,Vizayas and Mindanao from 2010-2020.RESULTS:Totally 636 patients,involving 821 eyes,were included.Majority(57%)were from Luzon and were seen in institutions in Luzon(72%).Annually,58±10 new cases were seen with 71%having unilateral disease.Median delay of consultation remained long at 9(3,17)mo,longest in patients with unilateral disease(P<0.02)and those from the Visayas(P<0.003).Based on the International Retinoblastoma Staging System,only 35%of patients had Stage 1 while 47%already had extraocular disease.Enucleation was the most common treatment received by 484 patients while intravenous chemotherapy was received by 469.There were 250(39%)patients alive,195(31%)dead,85(13%)abandoned,17(3%)refused and 89(14%)with no data.CONCLUSION:This study presents the largest cohort of retinoblastoma patients in the Philippines in terms of patients’and participating institutions’number and geographical location and type of institution(private and public).It also presents more comprehensive data on the treatments used and outcomes(survival,globe salvage,and vision retention rates).Delay in consultation was still long among patients leading to advanced disease stage and lower survival rate.Despite increasing capacity to diagnose and manage retinoblastoma in the country,the delay of consultation remains long primarily due to accessibility issues to eye care institutions especially in the Visayas and financial concerns.The delay was still significant that overall survival rate remain low.
文摘Objective Retinoblastoma(RB)is a prevalent type of eye cancer in youngsters.Prospero homeobox 1(Prox1)is a homeobox transcriptional repressor and downstream target of the proneural gene that is relevant in lymphatic,hepatocyte,pancreatic,heart,lens,retinal,and cancer cells.The goal of this study was to investigate the role of Prox1 in RB cell proliferation and drug resistance,as well as to explore the underlying Notch1 mechanism.Methods Human RB cell lines(SO-RB50 and Y79)and a primary human retinal microvascular endothelial cell line(ACBRI-181)were used in this study.The expression of Prox1 and Notch1 mRNA and protein in RB cells was detected using quantitative real time-polymerase chain reaction(RT-qPCR)and Western blotting.Cell proliferation was assessed after Prox1 overexpression using the Cell Counting Kit-8 and the MTS assay.Drug-resistant cell lines(SO-RB50/vincristine)were generated and treated with Prox1 to investigate the role of Prox1 in drug resistance.We employed pcDNA-Notch1 to overexpress Notch1 to confirm the role of Notch1 in the protective function of Prox1.Finally,a xenograft model was constructed to assess the effect of Prox1 on RB in vivo.Results Prox1 was significantly downregulated in RB cells.Overexpression of Prox1 effectively decreased RB cell growth while increasing the sensitivity of drug-resistant cells to vincristine.Notch1 was involved in Prox1’s regulatory effects.Notch1 was identified as a target gene of Prox1,which was found to be upregulated in RB cells and repressed by increased Prox1 expression.When pcDNA-Notch1 was transfected,the effect of Prox1 overexpression on RB was removed.Furthermore,by downregulating Notch1,Prox1 overexpression slowed tumor development and increased vincristine sensitivity in vivo.Conclusion These data show that Prox1 decreased RB cell proliferation and drug resistance by targeting Notch1,implying that Prox1 could be a potential therapeutic target for RB.
文摘Background: Retinoblastoma, the most common intraocular pediatric cancer, presents complexities in its genetic landscape that necessitate a deeper understanding for improved therapeutic interventions. This study leverages computational tools to dissect the differential gene expression profiles in retinoblastoma. Methods: Employing an in silico approach, we analyzed gene expression data from public repositories by applying rigorous statistical models, including limma and de seq 2, for identifying differentially expressed genes DEGs. Our findings were validated through cross-referencing with independent datasets and existing literature. We further employed functional annotation and pathway analysis to elucidate the biological significance of these DEGs. Results: Our computational analysis confirmed the dysregulation of key retinoblastoma-associated genes. In comparison to normal retinal tissue, RB1 exhibited a 2.5-fold increase in expression (adjusted p Conclusions: Our analysis reinforces the critical genetic alterations known in retinoblastoma and unveils new avenues for research into the disease’s molecular basis. The discovery of chemoresistance markers and immune-related genes opens potential pathways for personalized treatment strategies. The study’s outcomes emphasize the power of in silico analyses in unraveling complex cancer genomics.
文摘Retinoblastoma is caused by mutational inactivation of both alleles of the RB1 gene, which maps to chromosome 13 q14 and encodes retinoblastoma protein that acts as a tumor suppressor. Histopathological high-risk features of retinoblastoma are predictive of metastasis or local recurrence. The focus of this update is to emphasize the recent advances in pathology, various molecular key pathways and genome wide approaches for newer potential therapeutic future targets associated with retinoblastoma tumor biology. This review article highlights the new biomarkers expressed by the retinoblastoma tumor for the better survival of patients.
文摘AIMTo study eyes with extraocular dissemination (EORB), with the following aims: first to establish the mean lag period and to understand various reasons for delayed presentation, second to study their imaging profiles and third to analyze histopathological features of eyes enucleated after neoadjuvant chemotherapy.
文摘A study was conducted to see the association of retinoblastoma with age, bilaterism, Tumor size, site, grades, involvement of anterior chamber, iris, ciliary body, choroid, sclera and optic nerve, and extraocular extension. This was a retrospective descriptive analytical study. The records of the Institute of Ophthalmology, King Edward Medical University/Mayo hospital, Lahore: Pakistan January 2006-Dec 2011 was analyzed. Five years biopsies (June 2006 to June 2012) of the retinoblastoma, from the Pathology department, was retrieved to see optic nerve involvement in all the retrieved specimens. The mean age was 3.54 ± 1.686 years. There were 15 cases of bilateral retinoblastoma and 37 cases with unilateral neoplasms. The age range of bilateral tumors was 2 - 6 years while the range in unilateral tumor was 1 - 10 years male to female ratio was 1:1.5. Among 52 cases, 37 (71.2%) patients were unilateral retinoblastoma and 15 (28.28%) patients were with bilateral disease. On radiological examination of patients suffering from retinoblastoma by B-Scan (Ultrasound), there were 33 (63.5%) cases with exophytic presentation while 18 (34.6%) cases showed endophytic morphology. On clinical examinations, 28 patients presented with proptosis of (it was the most common presenting sign in our patients, accounting for about 53.8% of cases), 20 cases presented with leucocoria eye with strabismus. 29/52 patients showed involvement with optic nerve, 17 were from 1 - 3 years age and 12 were from 4 - 6 years. Statistically there was no difference in the involvement of optic nerve, disc involvement and extra ocular extension with the age of patients (p = 0.217). There was also no statistical difference seen in age and gender for but a strong association was seen with patient’s presentation, symptoms and size of the tumors and anterior chamber, iris, ciliary body, choroid, sclera and optic nerve, and extra ocular extension. We concluded that a positive association was seen with tumor size and tumor extension (optic nerve, and extraocular extension). No Association was seen with age, gender and laterality of the tumors.
文摘Dear Editor,Iam Di: Jinho Lee from the Department of Ophthalmology, Seoul National University Hospital, Seoul, Korea. I am writing to present five case series of intraocular medulloepithelioma. Medulloepitheliomas are the second most common type of pediatric intraocular tumors. They display clinical characteristics similar to retinoblastomas, such as leukocorias and intraocular endophytic masses, and are extremely difficult to clinically differentiate from retinoblastomas.
文摘·AIM: To collect and present updated evidence about epidemiological aspects of retinoblastoma(Rb) in the world.·METHODS: A comprehensive search without the time and language restrictions was conducted in international databases, including MEDLINE, Scopus, Web of Science, and Pub Med. The search keywords were “retinoblastoma” OR “retinal Neuroblastoma” OR “retinal glioma” OR “retinoblastoma eye cancer” OR “retinal glioblastoma”.·RESULTS: The worldwide incidence of Rb is 1 in 16 000-28 000 live births, but was higher in developing compared to developed countries. Several attempts for improving early detection and treatment had increased the Rb survival rate from 5% to 90% in developed countries over the past decade, but its survival was lower in developing countries(about 40% in low-income countries) and the majority of mortalities occurred in developing countries. The etiology of Rb could be viewed as genetics in the heritable form and environmental and lifestyle factors in the sporadic form. Some environmental risk factors such as in vitro fertilization;insect sprays;father’s occupational exposure to oil mists in metal working, and poor living conditions might play a role in the occurrence of the disease. Although ethnicity might affect Rb incidence, sex has no documented effect and the best treatment approaches were now ophthalmic artery chemosurgery and intravitreal chemotherapy.·CONCLUSION: Determining the role of genetics and environmental factors helps to accurately predict the prognosis and identify the mechanism of the disease, which can reduce the risk of tumor development.
基金Supported by the National Natural Science Foundation of China(No.81770964)Shanghai Science and Technology Committee(No.17411952900).
文摘AIM:To describe and compare pathologic findings in eyes enucleated after superselective ophthalmic arterial chemotherapy(SOAC)or SOAC with intravenous chemotherapy(IVC)for retinoblastoma.METHODS:Medical records between January 1st,2014 and June 30th,2017 were retrospectively analyzed,and pathologic findings were recorded.This study included 36 eyes from 22(61.1%)male and 14(38.9%)female patients.Nineteen of 36(52.8%)eyes received SOAC(mean=3,range=1-7)as primary treatment,and 17 of 36(47.2%)eyes received SOAC(mean=3.7,range=1-10)after IVC(mean=6.1,range=2-11).Tumor extension including choroidal invasion(n=9,25%),optic nerve invasion(n=5,13.9%)and anterior segment invasion(n=5,13.9%)were recorded.RESULTS:Histopathologic evidence of ischemic damage in the retina and choroid was found in 28(77.8%)eyes.Thrombosed blood vessels were identified in 9(25%)eyes,including orbital artery in the retrobulbar orbit(n=1),intrascleral vessels(n=4),and chorioretinal vessels(n=6).Fibrotic changes were found in extraocular muscles(n=5,13.9%)and optic nerve(n=5,13.9%).Varying degrees of scleral degeneration were found in all eyes.In statistical analysis,there was no significant difference in clinical and pathologic changes between SOAC group and SOAC with IVC group except for optic nerve invasion(P=0.047).CONCLUSION:SOAC for retinoblastoma can result in ocular toxicity,and SOAC with IVC do not increase the toxicity but reduced the incidence of optic nerve invasion.
基金Supported in part by funding from the the Teuku Jacobs Foundation Research Fellowship Program(No.#312)。
文摘AIM:To investigate the impact of lag time to metastasis and survival rates among patients with retinoblastoma.METHODS:This retrospective study was conducted with 52 patients from the Department of Ophthalmology and the Department of Pediatrics of Dr.Sardjito General Hospital,between 1^(st) January 2014 and 31^(st) December 2020.Lag time was defined as the time delay between the first sign of retinoblastoma to the diagnosis of retinoblastoma.The subjects with lag time>one year were included in the case group,while the subjects with lag time<one year were included in the control group.RESULTS:The lag time was significantly correlated with American Joint Committee on Cancer and Intraocular Classification of Retinoblastoma staging of retinoblastoma(P=0.005 and P=0.006,respectively).The lag time was also significantly correlated with both metastasis event[odds ratio(OR):5.06,95%Cl:1.56-16.44,P=0.006]and mortality(OR:4.54,95%Cl:1.37-15.07,P=0.011).The follow-up was continued for 32 subjects for 3y after initial diagnoses.Survival analysis revealed a significant difference among these two groups(P=0.021).Furthermore,lag time was significantly correlated with survival of retinoblastoma(r=-0.53,P=0.046).CONCLUSION:The study highlights the importance of lag time between the onset of first symptoms and the time of retinoblastoma diagnosis which significantly contribute to metastasis and mortality of patients with retinoblastoma.Examinations for the early detection of retinoblastoma should be performed for individuals at-risk to minimize lag time and improve the outcomes.
文摘Retinoblastoma (Rb) was reported firstly by Benedict is the commonest pediatric intraocular malignant tumor in children younger than 5 years of age. The study was conducted to detect the RB-1 gene for prognostic evaluation in retinoblastoma and to see the frequency of RB-1 gene in our population. This was a retrospective descriptive analytical study. Five years biopsies (January, 2006 to December 2011) of the retinoblastoma, from the Pathology department, was retrieved to see optic nerve involvement in all the retrieved specimens. The study was taken to see the mutation of RB1 gene by immunohistochemistry and PCR. The study plan was approved from Institutional Review Board (IRB) of the University. All the cases showed positivity of abnormal Rb-1 gene proteins expression by Immunohistochemistry staining. On PCR, 51/52 (98%) tumors expressed gene mutation as compared to 100% expression shown by IHC. Out of these, 28/51 (55%) cases showed ONI and ODI with positivity for mutated RB gene. A positive association was seen among RB gene mutation with ONI and ODI (p = 0.05). There were 33/51 (65%) cases who did not show any EOE but showed PCR positivity for RB gene mutation. While there were 18/51 (35%) cases who showed EOE and positivity of PCR for Rb-1 gene mutation and a positive association was seen with EOE and gene mutation (p = 0.005). The most common sequence of mutation was on 13 with 33 cases for double mutation, 12 cases for single and 6 patients for triple pattern of mutation. Most of the double and triple sequences of mutations were associated with ONI, ODI and EOE. We concluded that mutation of RB-1 gene is responsible in causation of the tumors with a positive association with tumor size and tumor extension (optic nerve, and extraocular extension), and mutation affects patients with all ages, both gender and unilateral and bilateral tumors.
文摘AIM:To assess the clinical and genetic characteristics of children diagnosed with retinoblastoma(RB)at Gazi University Faculty of Medicine’s Department of Pediatric Oncology.METHODS:All cases diagnosed with RB and received treatment and follow-up in the Ophthalmology and Pediatric Oncology Department,October 2016 to May 2021 were evaluated retrospectively.The RB1 gene was analyzed by next-generation sequencing(NGS)technique in DNAs obtained from peripheral blood samples of the patients.RESULTS:This study included 53 cases with 67 RBaffected eyes during the study period.The mean age was 24.6(median:18.5,range:3–151)mo.There were 15(22.3%)Group D eyes and 39(58.2%)Group E eyes.The RB1 gene was sequenced by the NGS method in 19 patients.Heterozygous RB1:NM_000321.3:c.54_76del(p.Glu19AlafsTer4)variant was detected in a 15-month-old female with bilateral RB.Heterozygous RB1:NM_000321.3:c.1814+3A>T variant was detected in a 5.5-month-old male with bilateral RB.The intronic RB1:NM_000321.3:c.1332+4A>G variant was detected in patient 14,a 13-month-old male with unilateral RB.The RB1:NM_000321.3:c.575_576del(p.Lys192SerfsTer10)variant was found in an 18-month-old female with an allele frequency of 37%.These variants have not been reported in the literature and mutation databases.CONCLUSION:Four novel variants are described and one of them is found in two different patients.This data is crucial for assessing prognosis.It serves as a guide for estimating the long-term risk of secondary malignancy as well as the short-term risk of developing additional malignancies in the same eye and the other eye.
文摘The Retinoblastoma 1 (RB1) gene, located on chromosome 13q14 and encodes the tumor-suppressor retinoblastoma protein, is the cause of Retinoblastoma. The mutational inactivation of both gene alleles brings on this cancer. Retinoblastoma (RB) high-risk histopathological characteristics indicate metastasis or local recurrence with rapid progresses following RB1 inactivation. There is growing interest in regulatory activities unconnected to the coding region of the genome, or exome, in addition to epigenetic control mechanisms. The altered epigenome is significant, though by no means the only, problem in the etiology of Retinoblastoma. After all, cancer development is a multistep process in which numerous dissimilar genetic, epigenetic, and posttranscriptional modifications result in a shared phenotype. This study emphasizes the most recent developments in posttranscriptional change and epigenetics related to retinoblastoma tumor biology. Here, we highlight the novel biomarkers the retinoblastoma tumor has expressed to improve patient survival.
文摘目的探讨长链非编码RNA(long non-coding RNA,LncRNA)核富集转录体1(nuclera-enriched autosomaltranscript,NEAT1)在视网膜母细胞瘤(retinoblastoma,Rb)患儿血清中表达,以及下调Rb细胞Y79中NEAT1对细胞生物学功能的影响。方法以2015年3月~2021年3月鄂东医疗集团黄石市中心医院诊疗的83例Rb患儿为研究对象,同期,在儿童保健中心选取健康儿童50例(对照组),实时荧光定量PCR(quantitative real-time PCR,qRT-PCR)检测血清中NEAT1表达,分析Rb患儿和对照组血清NEAT1表达差异,以及不同临床指标Rb患者血清中NEAT1表达差异。培养Y79细胞并分为si-NEAT1组(转染NEAT1的干扰序列)、si-NC组(转染对照序列)和Ctl组(仅加入转染试剂),分别使用qRT-PCR,MTT,流式细胞术和Transwell检测NEAT1表达、细胞增殖、凋亡、迁移和侵袭情况。结果Rb患儿血清中NEAT1表达量(1.43±0.28)高于对照组(1.01±0.21),差异具有统计学意义(t=9.116,P<0.001);国际视网膜母细胞瘤分期(Intraocular International Retinoblastoma classificaton,IIRC)CDE期、低分化、视神经浸润和淋巴结转移的Rb患儿血清中NEAT1表达量明显高于AB期、中高分化、未发生视神经浸润和淋巴结转移的Rb患儿,差异具有统计学意义(t=2.190~3.693,均P<0.05);血清中NEAT1表达诊断Rb曲线下面积为0.882(95%CI:0.826~0.937),当NEAT1表达量取1.20时,灵敏度和特异度分别为80.00%和79.52%;相比于si-NC组(1.03±0.09)和Ctl组(1.02±0.15),si-NEAT1组细胞中NEAT1表达(0.35±0.06)明显降低,差异具有统计学意义(t=14.829,9.994,均P<0.001);si-NEAT1组24,48,72和96 h时吸光度(A值)明显低于si-NC组和Ctl组(tsi-NC=2.796~4.362,tCtl=2.641~5.555,均P<0.05),而细胞凋亡率相比于si-NC组和Ctl组明显升高,差异具有统计学意义(t=4.999,3.915,均P<0.05);与si-NC组和Ctl组比较,si-NEAT1组迁移细胞数(116.50±9.35 vs 132.00±7.32,134.00±7.95)和侵袭细胞数(96.33±8.94 vs 117.67±12.39,119.17±10.05)均降低,差异具有统计学意义(tsi-NC=3.196,3.421,tCtl=3.492,4.159,均P<0.05)。结论Rb患儿血清中NEAT1表达量升高,对Rb患儿具有一定的诊断价值,沉默Y79细胞中NEAT1表达可减少Rb细胞增殖、加速细胞凋亡,同时抑制细胞迁移和侵袭。