• Title, Summary, Keyword: Retinoblastoma

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Outcomes of Cataract Surgery Following Treatment for Retinoblastoma

  • Kim, Hyeong Min;Lee, Byung Joo;Kim, Jeong Hun;Yu, Young Suk
    • Korean Journal of Ophthalmology
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    • v.31 no.1
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    • pp.52-57
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    • 2017
  • Purpose: To evaluate the long-term visual outcomes and complications of cataract surgery in eyes previously treated for retinoblastoma. Methods: We reviewed the medical records of patients who underwent cataract extraction and intraocular lens implantation at Seoul National University Children's Hospital for a secondary cataract that developed after retinoblastoma treatment. Results: During the period between 1990 and 2014, 208 eyes of 147 patients received eye-salvaging treatment (radiotherapy, chemotherapy, and local therapy) for retinoblastoma at Seoul National University Children's Hospital. Among these eyes, a secondary cataract was detected in 17 eyes of 14 patients, and five eyes of five patients underwent cataract surgery. The median age of cataract formation was 97 months (range, 38 to 153 months). The medial interval between the diagnosis of retinoblastoma and cataract formation was 79 months (range, 29 to 140 months). All patients received posterior chamber intraocular lens insertion after irrigation and aspiration of the lens through a scleral tunnel incision. Anterior vitrectomy and posterior capsulotomy were performed in two eyes and a laser capsulotomy was subsequently performed in one eye. No intraoperative and postoperative complications occurred. The median follow-up after surgery was 36 months (range, 14 to 47 months). The final best corrected visual acuities were improved in all five eyes. No intraocular tumor recurrences or metastases occurred. Conclusions: After retinoblastoma regression, cataract extraction in our series was not associated with tumor recurrence or metastasis. Visual improvement was noted in every patient.

Parental Age-Related Risk of Retinoblastoma in Iranian Children

  • Saremi, Leila;Imani, Saber;Rostaminia, Maryam;Nadeali, Zakiye
    • Asian Pacific Journal of Cancer Prevention
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    • v.15 no.6
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    • pp.2847-2850
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    • 2014
  • Background: Retinoblastoma is a rare malignant intraocular neoplasm. About 90% of cases feature a germline mutation in the RB1 gene and these will develop retinoblastoma during their early childhood. An association between mutations in germline cells and aging has been demonstrated. This suggests a higher incidence of childhood cancer including retinoblastoma among children of older parents. Materials and Methods: In the present study we aimed to determine the association of paternal and maternal age with an increased risk of retinoblastoma in a case-control study in Iranian population. The study was carried out on 240 persons who were born during 1984-2012 in Mahak and Mofid hospitals in Tehran, Iran. The statistical analysis included studying the mean age of parents and in order to know whether parental age of patients is different from parental age of control group, (t-test) compare averages test is used perfectly. By binary logistic regression, odds ratios (ORs) and 95% confidence intervals (CIs) were calculated. Results: The results of statistical analysis including the study of mean parental age by the use of (t-test) compare averages test showed a significant difference between parental ages of patients and controls. Logistic regression showed that coefficients were significant for maternal but not paternal age. Conclusions: Our findings indicate that advanced maternal age can increase the risk of retinoblastoma in offspring, but the paternal age has no significant effect.

Trilateral Retinoblastoma - Case Report - (일측성 망막아세포종과 동반된 이소성 정중선 원시신경외배엽종 - 증례보고 -)

  • Kim, Hyung Seok;Cho, Kyung Gi;Cho, Ki Hong;Yoon, Soo Han;Ahn, Young Min;Ahn, Young Hwan;Shim, Chul
    • Journal of Korean Neurosurgical Society
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    • v.30 no.5
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    • pp.647-651
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    • 2001
  • Trilateral retinoblastoma is a syndrome involving midline intracranial malignancies in children with the heritable form of retinoblastoma. It is rare and usually lethal in spite of aggressive treatments. We report a case of trilateral retinoblastoma with review of the literature to gain further insight into this uncommon disease.

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Characteristics of Purinergic Receptor Expressed in Human Retinoblastoma Cells

  • Kim, Dae-Ran;Kong, In-Deok
    • Biomedical Science Letters
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    • v.13 no.4
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    • pp.333-339
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    • 2007
  • Recently, much attention has been paid to human retinoblastoma since it provide a good model system for studying mechanisms underlying cell growth, differentiation, proliferation, and apoptosis, and for developing cancer therapy. However, until now it is unclear whether purinergic receptors are involved in the calcium mobilization in the retinoblastoma cells. In this regard, we measured possible purinergic signaling in WERI-Rb-1 cells using $Ca^{2+}$ imaging technique and RT-PCR method. ATP-induced $[Ca^{2+}]_i$ transients was maintained to about $90.7{\pm}1.0%$ of the control (n=48) even in the absence of extracellular calcium. The ATP-induced intracellular calcium response was only attained to $10.4{\pm}1.8%$ (n=55) of peak amplitude of the control after preincubation of 1 ${\mu}MU-73122$, a PLC inhibitor, but it was not affected by 1 ${\mu}MU-73343$, a inactive form of U-73122. And also ATP-induced $[Ca^{2+}]_i$ rise was almost attenuated by 20 ${\mu}M$ 2-APB, a putative $IP_3$ receptor inhibitor. Two subtypes of $IP_3$ receptor $(IP_{3-1}R,\;IP_{3-2}R)$ were identified by a RT-PCR method. These findings suggest that purinergic stimuli can cause calcium mobilization via $PLC-IP_3$ pathway after the activation of P2Y receptors in the retinoblastoma cells, which may play important roles in cell proliferation, differentiation, growth, and cell death.

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Functional Expression of P2Y Receptors in WERI-Rb1 Retinoblastoma Cells

  • Kim, Na-Hyun;Park, Kyu-Sang;Sohn, Joon-Hyung;Yeh, Byung-Il;Ko, Chang-Mann;Kong, In-Deok
    • The Korean Journal of Physiology and Pharmacology
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    • v.15 no.1
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    • pp.61-66
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    • 2011
  • P2Y receptors are metabotropic G-protein-coupled receptors, which are involved in many important biologic functions in the central nervous system including retina. Subtypes of P2Y receptors in retinal tissue vary according to the species and the cell types. We examined the molecular and pharmacologic profiles of P2Y purinoceptors in retinoblastoma cell, which has not been identified yet. To achieve this goal, we used $Ca^{2+}$ imaging technique and western blot analysis in WERI-Rb-1 cell, a human retinoblastoma cell line. ATP ($10\;{\mu}M$) elicited strong but transient $[Ca^{2+}]_i$ increase in a concentration dependent manner from more than 80% of the WERI-Rb-1 cells (n=46). Orders of potency of P2Y agonists in evoking $[Ca^{2+}]_i$ transients were 2MeS-ATP>ATP>>UTP=${\alpha}{\beta}$-MeATP, which was compatible with the subclass of $P2Y_1$ receptor. The $[Ca^{2+}]_i$ transients evoked by applications of 2MeS-ATP and/or ATP were also profoundly suppressed in the presence of $P2Y_1$ selective blocker (MRS 2179; $30\;{\mu}M$). $P2Y_1$ receptor expression in WERI-Rb-1 cells was also identified by using western blot. Taken together, $P2Y_1$ receptor is mainly expressed in a retinoblastoma cell, which elicits $Ca^{2+}$ release from internal $Ca^{2+}$ storage sites via the phospholipase C-mediated pathway. $P2Y_1$ receptor activation in retinoblastoma cell could be a useful model to investigate the role of purinergic $[Ca^{2+}]_i$ signaling in neural tissue as well as to find a novel therapeutic target to this lethal cancer.

Detection of Germline Mutations in Argentine Retinoblastoma Patients: Low and Full Penetrance Retinoblastoma Caused by the Same Germline Truncating Mutation

  • Dalamon, Viviana;Surace, Ezequiel;Giliberto, Florencia;Ferreiro, Veronica;Fernandez, Cecilia;Szijan, Irene
    • BMB Reports
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    • v.37 no.2
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    • pp.246-253
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    • 2004
  • Constitutional RB1 gene mutations were studied in a series of 21 families with unilateral and bilateral retinoblastoma patients. Peripheral blood lymphocytes were analyzed by "exon by exon" PCR-heteroduplex and sequencing. Mutations were identified in 6 (29%) of the patients. One mutation corresponded to an intronic polymorphism in g.174351T > A. The other five mutations resulted C to T exonic transitions, four were CGA sequences (g.65386, g.150037 in two patients, and g.162237), creating stop codons and presumably truncated proteins. The fifth one was new and resulted in alanine to valine substitution (g.73774). Two patients had the same the germline truncated mutation (g.150037C > T), one with a familial bilateral early onset retinoblastoma and one with a sporadic unilateral late onset retinoblastoma. The later type has not been previously described. This finding is discussed in the genotype/phenotype correlation context. Additionally, a single nucleotide change was found in six studied samples, where a C to T homozygous transversion was identified in intron 26 (IVS26 + 28). It is worthy the non concordance of the nucleotide with the published sequence. This analysis proved to be a useful method for the detection of mutations in the RB1 gene, and contributed to the adequate genetic counseling to patients and relatives.

Presentation of Retinoblastoma Patients in Malaysia

  • Subramaniam, Shridevi;Rahmat, Jamalia;Rahman, Norazah Abdul;Ramasamy, Sunder;Bhoo-Pathy, Nirmala;Pin, Goh Pik;Alagaratnam, Joseph
    • Asian Pacific Journal of Cancer Prevention
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    • v.15 no.18
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    • pp.7863-7867
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    • 2014
  • Background: Retinoblastoma is a rare type of cancer that usually develops in early childhood. If left untreated it can cause blindness and even death. The aim of this study is to determine sociodemographic and clinical features of retinoblastoma patients and also to determine the treatment pattern and outcome in Malaysia. Materials and Methods: Data for this study were retrieved from the Retinoblastoma Registry of the National Eye Database (NED) in Malaysia. Hospital Kuala Lumpur, Hospital Umum Kuching, Sarawak and Hospital Queen Elizabeth, Kota Kinabalu were the major source data providers for this study. Data collected in the registry cover demography, clinical presentation, modes of treatment, outcomes and complications. Results: The study group consisted of 119 patients (162 eyes) diagnosed with retinoblastoma between 2004 and 2012. There were 68 male (57.1%) and 51 (42.9%) female. The median age at presentation was 22 months. A majority of patients were Malays (54.6%), followed by Chinese (18, 5%), Indians (8.4%), and indigenous races (15.9%). Seventy six (63.8%) patients had unilateral involvement whereas 43 patients had bilateral disease (36.1%). It was found that most children presented with leukocoria (110 patients), followed by strabismus (19), and protopsis (12). Among the 76 with unilateral involvement (76 eyes), enucleation was performed for a majority (79%). More than half of these patients had extraocular extension. Of the 40 who received chemotherapy, 95% were given drugs systemically. Furthermore, in 43 patients with bilateral involvement (86 eyes), 35 (41%) eyes were enucleated and 17 (49%) showed extraocular extension. Seventy-two percent of these patients received systemic chemotherapy. The patients were followed up 1 year after diagnosis, whereby 66 were found to be alive and 4 dead. Sixteen patients defaulted treatment and were lost to follow-up, whereas follow-up data were not available in 33 patients. Conclusions: Patients with retinoblastoma in this middle-income Asian setting are presenting at late stages. As a result, a high proportion of patients warrant aggressive management such as enucleation. We also showed that a high number of patients default follow-up. Therefore, reduction in refusal or delay to initial treatment, and follow-up should be emphasized in order to improve the survival rates of retinoblastoma in this part of the world.

Incidences, Trends and Long Term Outcomes of Retinoblastoma in Three Cancer Registries, Thailand

  • Wongmas, Piyathida;Jetsrisuparb, Arunee;Komvilaisak, Patcharee;Suwanrungruang, Krittika;Choeyprasert, Worawut;Sriplung, Hutcha;Wiangnon, Surapon
    • Asian Pacific Journal of Cancer Prevention
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    • v.16 no.16
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    • pp.6899-6902
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    • 2015
  • Background: Retinoblastoma (RB) is rare, albeit the most common primary intraocular malignancy among children. To elucidate the true incidence, trend and survival, we studied incidences and trends of retinoblastoma in a large population with long-term follow-up using data from 3 population-based cancer registries. Objective: To describe the incidence, trends and survival of RB between 1990 and 2009 in Khon Kaen, Songkhla and Chiang Mai, Thailand. Materials and Methods: We sourced the data from the cancer registries in Khon Kaen, Songkhla and Chiang Mai on children with retinoblastoma, diagnosed between 1990 and 2009. Retinoblastoma was defined as per the International Classification of Disease for Oncology version 3 using the code 9510/3. Incidence was analyzed using the standard method with the criteria of the International Association of Cancer Registries. The Kaplan-Meier method was applied to calculate cumulative survival. Trends were calculated using the log rank test. Results: We identified 75 cases of children between 0 and 15 years of age diagnosed with RB (Khon Kaen 31, Chiang Mai 20, Songkhla 24). Males and females were equally affected. The most common age group was 0-4 years. The morphological verification of the disease was 90.7%. The respective ASR in Khon Kaen, Chiang Mai and Songkhla was 4.4, 4.0 and 4.6 per million; for which the overall ASR for all 3 areas was 4.3 per million. The respective trend in incidence was 4, 2.8, 5.8 and 5.4 during 1990-4, 1995-9, 2000-4 and 2005-9. Overall, incidence trended gradually upward by 2% annually. The respective survival rate in Khon Kaen, Chiang Mai and Songkhla was 50, 40 and 75% (differences not significantly different at p=0.14) and the overall survival for all centers was 60%. Conclusions: Over the last two decades, the incidence and overall survival of retinoblastoma has increased. The ASRs and survival in Thailand were less than those in resource-rich countries.

Networks of MicroRNAs and Genes in Retinoblastomas

  • Li, Jie;Xu, Zhi-Wen;Wang, Kun-Hao;Wang, Ning;Li, De-Qiang;Wang, Shang
    • Asian Pacific Journal of Cancer Prevention
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    • v.14 no.11
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    • pp.6631-6636
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    • 2013
  • Through years of effort, researchers have made notable progress in gene and microRNA fields about retinoblastoma morbidity. However, experimentally validated data for genes, microRNAs (miRNAs) and transcription factors (TFs) can only be found in a scattered form, which makes it difficult to conclude the relationship between genes and retinoblastoma systematically. In this study, we regarded genes, miRNAs and TFs as elements in the regulatory network and focused on the relationship between pairs of examples. In this way, we paid attention to all the elements macroscopically, instead of only researching one or several. To show regulatory relationships over genes, miRNAs and TFs clearly, we constructed 3 regulatory networks hierarchically, including a differentially expressed network, a related network and a global network, for analysis of similarities and comparison of differences. After construction of the three networks, important pathways were highlighted. We constructed an upstream and downstream element table of differentially expressed genes and miRNAs, in which we found self-adaption relations and circle-regulation. Our study systematically assessed factors in the pathogenesis of retinoblastoma and provided theoretical foundations for gene therapy researchers. In future studies, especial attention should be paid to the highlighted genes and miRNAs.

Osteoplastic Reconstruction of Post-enucleatic Microorbitalism

  • Yun, Ji Young;Kang, Seok Ju;Kim, Jin Woo;Kim, Young Hwan;Sun, Hook
    • Archives of Plastic Surgery
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    • v.39 no.4
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    • pp.333-337
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    • 2012
  • Background Patients who have undergone enucleation during infancy due to retinoblastoma can develop microorbitalism due to the decreased growth stimulation from the eyeball and the surrounding soft tissues. Anatomically, the orbit consist of parts of the frontal bone superiorly, the maxilla inferiorly, the ethmoid bone medially, and the zygoma laterally. Considering the possibility of surgically expanding the orbit using tripod osteotomy, in this study we conducted tripod osteotomy on adult patients with microorbitalism of retinoblastoma. Methods Tripod osteotomy was conducted to expand the orbital volume in adult patients with microorbitalism due to enucleation in infancy for retinoblastoma. The orbital volume was measured using the Aquarius Workstation ver. 4.3.6 and the orbit width was measured with preoperative and postoperative 3-dimensional facial bone computed tomography (CT) imaging. Preoperative and postoperative photographs were used to visualize the difference produced by the surgery. Results The orbital volume of the affected side was 10.3 $cm^3$ before and 12.5 $cm^3$ after the surgery, showing an average increase in volume of 2.2 $cm^3$ (21.4%). The increase in the obital width was confirmed by the preoperative and postoperative 3-dimensional facial CT images and aesthetic improvement was observed by the preoperative and postoperative photographs. Conclusions Tripod osteotomy, which realigns the orbital bone, zygoma, and maxilla, is used to correct posttraumatic malunion as well as non-traumatic congenital abnormalities such as that seen in facial cleft. We applied this procedure in microorbitalism secondary to enucleation for retinoblastoma to allow orbital expansion and correct asymmetry.