9 research outputs found
Periocular Chemotherapy in Palpebral Malignancies: A Review
No full textBackground: Palpebral malignancy is still a significant health problem and consists of sebaceous gland carcinoma (SGC), basal cell carcinoma (BCC), squamous cell carcinoma (SCC), and malignant melanoma (MM). Although total resection using the Moh micrograph method is standard therapy for these cases, perioral chemotherapy may be an alternative therapy in patients where surgery cannot be performed.Content: Periocular chemotherapy in lid malignancy is recommended in cases that are inhibited or contraindicated for surgery, with obscure tumor margins, with markers of tumor invasion of vascular, lymphatic, nerve, or other orbital structures, signs of relapse after surgery, local pagetoid involvement, sizeable tumor size, and also presented an appearance of diffuse and multifocal tumor on histopathological examination. Choices of local chemotherapeutic agents based on the variety of palpebral malignancy, namely: (1) imiquimod for BCC; (2) mitomycin-C for SGC; (3) cisplatin, doxorubicin, bleomycin, peplomycin, methotrexate, and 5-fluorouracil for SCC; and (4) Imiquimod for MM. Topical chemotherapy is given to patients using an iodontotherapy method or ophthalmic cream.. More often than not, topical chemotherapy possessed a few side effects that are mild and tolerable and disappear on their own after treatment has finished.Conclusion: Local/periocular chemotherapy for palpebral malignancy is an alternative adjuvant therapy that can be considered, especially in cases where surgery is not possible. Key words: Malignancy, chemotherapy, palpebral, periocula
Ekspresi Gen P53 Pada Pterigium Primer Dan Pterigium Rekuren
No full textThe purpose of the present study was to identify and compare the mutant P53 expression in primary and recurrent pterygium. The method of the study was observational analytic cross- sectional study with 19 samples of primary pterygium and 19 samples recurrent pterygium. Data obtained with pterygium tissue sampling then performed with immunohistochemical examination. Results The Study was conducted for 5 month with 19 samples of primary pterygium and 19 samples of recurrent pterygium. From the overall data shown that P53 expression of primary and recurrent pterygium average 191.6 while there is 38.3 for primary pterygium and 344.8 for recurrent pterygium. There were significant differences between the expression of P53 of primary and P53 expression of recurrent pterygium with (P = 0.000). Conclusions is There was no significant difference in the mean expression of P53 according to the stage of pterygium although there was a tendency of P53 expression of getting smaller with increasing stage of pterygium.Tujuan penelitian untuk mengetahui dan membandingkan ekspresi P53 mutan pada pterigium primer dan pterigium rekuren. Metode Penelitian ini merupakan penelitian analitik observasional cross sectional study dengan 19 sampel pterigium primer dan 19 sampel pterigium rekuren. Data diperoleh dengan cara pengambilan jaringan pterigium kemudian dilakukan pemeriksaan imunohistokimia. Hasil Penelitian ini dilakukan selama 5 bulan dengan 19 sampel pterigium primer dan 19 sampel pterigium rekuren. Dari keseluruhan data menunjukkan bahwa P53 ekspresi pterigium primer dan rekuren rata-rata 191,6 sementara ada 38,3 untuk pterigium primer dan 344,8 untuk pterigium rekuren. Ada perbedaan yang signifikan antara ekspresi P53 primer dan P53 ekspresi pterygium berulang dengan (P = 0,000). Kesimpulannya tidak ada perbedaan signifikan pada ekspresi P53 berdasarkan stadium pterigium meskipun ada kecenderungan ekspresi P53 semakin kecil dengan meningkatnya stadium pterigium
Novel Point Mutation and Intronic Mutations of RB1 gene in Retinoblastoma Patients in Indonesia
No full textRetinoblastoma (RB) is an inherited disorder caused by the RB1 gene mutation in retinal cells or germline mutation. Identifying the specific mutation is crucial for prognosis, inheritance risk assessment, and treatment planning. This study aimed to identify the germline mutation in the RB1 gene in patients with RB and their parents from the eastern part of Indonesia. This observational analytic study recruited patients with RB and their parents between 2016 and 2018 at Dr. Wahidin Sudirohusodo Hospital, Makassar, Indonesia. The normal control subjects were children from the outpatient clinic at the Department of Ophthalmology, Universitas Hasanuddin Hospital. Ophthalmic examinations and peripheral blood tests were performed in RB patients, their parents, and control subjects. Genomic DNA was isolated from blood leukocytes and amplified using conventional PCR. Hotspot exons 8, 10, 14, 17, and 22 were screened for mutations using the Sanger method. There were 21 patients with RB (16 unilateral and 5 bilateral) and 14 normal subjects. Of the 184 variations detected in RB patients, 164 were also found in normal subjects. 19 intronic mutations in introns 10, 16, 17, and 21, and 1 novel missense mutation in exon 17 were identified. Parental testing revealed 8 substitutions in exon 17 and 5 intronic mutations in introns 16 and 17 of the parents. None of the variations in exons were passed to their children. This study found a novel missense mutation in exon 17 of the RB1 gene
Cutler Beard Procedure for Bilateral Upper Eyelid Coloboma in Charge’s Syndrom: Surgical Outcome
No full textOcular coloboma is one of the anomalies that commonly seen in CHARGE syndrome. This syndrome is an autosomal dominant malformation which includes six major features: coloboma, heart defect, atresia of the choanae, retarded growth and development delay, genital hypoplasia, ear anomalies. Cutler-Beard procedure is one of the major technic when a total or near total upper eyelid is missing. To report the surgical outcome in bilateral upper eyelid coloboma in CHARGE syndrome patient after Cutler Beard’s procedure. A 8 month-old boy presented to the hospital with bilateral upper eyelid coloboma since birth. Other clinical manifestations including bilateral optic nerve coloboma, external ear anomalies, bilateral undecensus testis, growth and developmental delay, and CHARGE facies which were consistent with 2 and 4 major and minor diagnostic criteria. The patient underwent eyelid reconstruction by using Cutler Beard procedure in both of eyes. Cutler Beard procedure may be used as the primary reconstruction method in bilateral upper eyelid coloboma in CHARGE syndrome
Novel point mutation and intronic mutations of RB1 gene in retinoblastoma patients in Indonesia
No full textBACKGROUND Retinoblastoma (RB) is an inherited disorder caused by the RB1 gene mutation in retinal cells or germline mutation. Identifying the specific mutation is crucial for prognosis, inheritance risk assessment, and treatment planning. This study aimed to identify the germline mutation in the RB1 gene in patients with RB and their parents from the eastern part of Indonesia.
METHODS This observational analytic study recruited patients with RB and their parents between 2016 and 2018 at Dr. Wahidin Sudirohusodo Hospital, Makassar, Indonesia. The normal control subjects were children from the outpatient clinic at the Department of Ophthalmology, Universitas Hasanuddin Hospital. Ophthalmic examinations and peripheral blood tests were performed in RB patients, their parents, and control subjects. Genomic DNA was isolated from blood leukocytes and amplified using conventional PCR. Hotspot exons 8, 10, 14, 17, and 22 were screened for mutations using the Sanger method.
RESULTS There were 21 patients with RB (16 unilateral and 5 bilateral) and 14 normal subjects. Of the 184 variations detected in RB patients, 164 were also found in normal subjects. 19 intronic mutations in introns 10, 16, 17, and 21, and 1 novel missense mutation in exon 17 were identified. Parental testing revealed 8 substitutions in exon 17 and 5 intronic mutations in introns 16 and 17 of the parents. None of the variations in exons were passed to their children.
CONCLUSIONS This study found a novel missense mutation in exon 17 of the RB1 gene
Retinoblastoma in Asia: Clinical Presentation and Treatment Outcomes in 2112 Patients from 33 Countries
No full textPurpose: To describe the clinical presentation and treatment outcomes of children who received a diagnosis of retinoblastoma in 2017 throughout Asia. Design: Multinational, prospective study including treatment-naïve patients in Asia who received a diagnosis of retinoblastoma in 2017 and were followed up thereafter. Participants: A total of 2112 patients (2797 eyes) from 96 retinoblastoma treatment centers in 33 Asian countries. Interventions: Chemotherapy, radiotherapy, enucleation, and orbital exenteration. Main Outcome Measures: Enucleation and death. Results: Within the cohort, 1021 patients (48%) were from South Asia (SA), 503 patients (24%) were from East Asia (EA), 310 patients (15%) were from Southeast Asia (SEA), 218 patients (10%) were from West Asia (WA), and 60 patients (3%) were from Central Asia (CA). Mean age at presentation was 27 months (median, 23 months; range, < 1–261 months). The cohort included 1195 male patients (57%) and 917 female patients (43%). The most common presenting symptoms were leukocoria (72%) and strabismus (13%). Using the American Joint Committee on Cancer Staging Manual, Eighth Edition, classification, tumors were staged as cT1 (n = 441 [16%]), cT2 (n = 951 [34%]), cT3 (n = 1136 [41%]), cT4 (n = 267 [10%]), N1 (n = 48 [2%]), and M1 (n = 129 [6%]) at presentation. Retinoblastoma was treated with intravenous chemotherapy in 1450 eyes (52%) and 857 eyes (31%) underwent primary enucleation. Three-year Kaplan-Meier estimates for enucleation and death were 33% and 13% for CA, 18% and 4% for EA, 27% and 15% for SA, 32% and 22% for SEA, and 20% and 11% for WA (P < 0.0001 and P < 0.0001), respectively. Conclusions: At the conclusion of this study, significant heterogeneity was found in treatment outcomes of retinoblastoma among the regions of Asia. East Asia displayed better outcomes with higher rates of globe and life salvage, whereas Southeast Asia showed poorer outcomes compared with the rest of Asia. Financial Disclosure(s): The author(s) have no proprietary or commercial interest in any materials discussed in this article
The Global Retinoblastoma Outcome Study: a prospective, cluster-based analysis of 4064 patients from 149 countries
No full textBackground Retinoblastoma is the most common intraocular cancer worldwide. There is some evidence to suggest that major differences exist in treatment outcomes for children with retinoblastoma from different regions, but these differences have not been assessed on a global scale. We aimed to report 3-year outcomes for children with retinoblastoma globally and to investigate factors associated with survival. Methods We did a prospective cluster-based analysis of treatment-naive patients with retinoblastoma who were diagnosed between Jan 1,2017, and Dec 31,2017, then treated and followed up for 3 years. Patients were recruited from 260 specialised treatment centres worldwide. Data were obtained from participating centres on primary and additional treatments, duration of follow-up, metastasis, eye globe salvage, and survival outcome. We analysed time to death and time to enucleation with Cox regression models. Findings The cohort included 4064 children from 149 countries. The median age at diagnosis was 23.2 months (IQR 11.0-36.5). Extraocular tumour spread (cT4 of the cTNMH classification) at diagnosis was reported in five (0.8%) of 636 children from high-income countries, 55 (5.4%) of 1027 children from upper-middle-income countries, 342 (19. 7%) of 1738 children from lower-middle-income countries, and 196 (42.9%) of 457 children from low-income countries. Enudeation surgery was available for all children and intravenous chemotherapy was available for 4014 (98.8%) of 4064 children. The 3-year survival rate was 99.5% (95% CI 98.8-100.0) for children from high-income countries, 91.2% (89.5-93.0) for children from upper-middle-income countries, 80.3% (78.3-82.3) for children from lower-middle-income countries, and 57.3% (524-63-0) for children from low-income countries. On analysis, independent factors for worse survival were residence in low-income countries compared to high-income countries (hazard ratio 16.67; 95% CI 4.76-50.00), cT4 advanced tumour compared to cT1 (8.98; 4.44-18.18), and older age at diagnosis in children up to 3 years (1.38 per year; 1.23-1.56). For children aged 3-7 years, the mortality risk decreased slightly (p=0.0104 for the change in slope). Interpretation This study, estimated to include approximately half of all new retinoblastoma cases worldwide in 2017, shows profound inequity in survival of children depending on the national income level of their country of residence. In high-income countries, death from retinoblastoma is rare, whereas in low-income countries estimated 3-year survival is just over 50%. Although essential treatments are available in nearly all countries, early diagnosis and treatment in low-income countries are key to improving survival outcomes. Copyright (C) 2022 The Author(s). Published by Elsevier Ltd.Y
The Global Retinoblastoma Outcome Study: a prospective, cluster-based analysis of 4064 patients from 149 countries
No full textBackground: Retinoblastoma is the most common intraocular cancer worldwide. There is some evidence to suggest that major differences exist in treatment outcomes for children with retinoblastoma from different regions, but these differences have not been assessed on a global scale. We aimed to report 3-year outcomes for children with retinoblastoma globally and to investigate factors associated with survival. Methods: We did a prospective cluster-based analysis of treatment-naive patients with retinoblastoma who were diagnosed between Jan 1, 2017, and Dec 31, 2017, then treated and followed up for 3 years. Patients were recruited from 260 specialised treatment centres worldwide. Data were obtained from participating centres on primary and additional treatments, duration of follow-up, metastasis, eye globe salvage, and survival outcome. We analysed time to death and time to enucleation with Cox regression models. Findings: The cohort included 4064 children from 149 countries. The median age at diagnosis was 23·2 months (IQR 11·0–36·5). Extraocular tumour spread (cT4 of the cTNMH classification) at diagnosis was reported in five (0·8%) of 636 children from high-income countries, 55 (5·4%) of 1027 children from upper-middle-income countries, 342 (19·7%) of 1738 children from lower-middle-income countries, and 196 (42·9%) of 457 children from low-income countries. Enucleation surgery was available for all children and intravenous chemotherapy was available for 4014 (98·8%) of 4064 children. The 3-year survival rate was 99·5% (95% CI 98·8–100·0) for children from high-income countries, 91·2% (89·5–93·0) for children from upper-middle-income countries, 80·3% (78·3–82·3) for children from lower-middle-income countries, and 57·3% (52·1–63·0) for children from low-income countries. On analysis, independent factors for worse survival were residence in low-income countries compared to high-income countries (hazard ratio 16·67; 95% CI 4·76–50·00), cT4 advanced tumour compared to cT1 (8·98; 4·44–18·18), and older age at diagnosis in children up to 3 years (1·38 per year; 1·23–1·56). For children aged 3–7 years, the mortality risk decreased slightly (p=0·0104 for the change in slope). Interpretation: This study, estimated to include approximately half of all new retinoblastoma cases worldwide in 2017, shows profound inequity in survival of children depending on the national income level of their country of residence. In high-income countries, death from retinoblastoma is rare, whereas in low-income countries estimated 3-year survival is just over 50%. Although essential treatments are available in nearly all countries, early diagnosis and treatment in low-income countries are key to improving survival outcomes. Funding: Queen Elizabeth Diamond Jubilee Trust. © 2022 The Author(s). Published by Elsevier Ltd. This is an Open Access article under the CC BY 4.0 licens
Global Retinoblastoma Presentation and Analysis by National Income Level.
No full textIMPORTANCE: Early diagnosis of retinoblastoma, the most common intraocular cancer, can save both a child's life and vision. However, anecdotal evidence suggests that many children across the world are diagnosed late. To our knowledge, the clinical presentation of retinoblastoma has never been assessed on a global scale. OBJECTIVES: To report the retinoblastoma stage at diagnosis in patients across the world during a single year, to investigate associations between clinical variables and national income level, and to investigate risk factors for advanced disease at diagnosis. DESIGN, SETTING, AND PARTICIPANTS: A total of 278 retinoblastoma treatment centers were recruited from June 2017 through December 2018 to participate in a cross-sectional analysis of treatment-naive patients with retinoblastoma who were diagnosed in 2017. MAIN OUTCOMES AND MEASURES: Age at presentation, proportion of familial history of retinoblastoma, and tumor stage and metastasis. RESULTS: The cohort included 4351 new patients from 153 countries; the median age at diagnosis was 30.5 (interquartile range, 18.3-45.9) months, and 1976 patients (45.4%) were female. Most patients (n = 3685 [84.7%]) were from low- and middle-income countries (LMICs). Globally, the most common indication for referral was leukocoria (n = 2638 [62.8%]), followed by strabismus (n = 429 [10.2%]) and proptosis (n = 309 [7.4%]). Patients from high-income countries (HICs) were diagnosed at a median age of 14.1 months, with 656 of 666 (98.5%) patients having intraocular retinoblastoma and 2 (0.3%) having metastasis. Patients from low-income countries were diagnosed at a median age of 30.5 months, with 256 of 521 (49.1%) having extraocular retinoblastoma and 94 of 498 (18.9%) having metastasis. Lower national income level was associated with older presentation age, higher proportion of locally advanced disease and distant metastasis, and smaller proportion of familial history of retinoblastoma. Advanced disease at diagnosis was more common in LMICs even after adjusting for age (odds ratio for low-income countries vs upper-middle-income countries and HICs, 17.92 [95% CI, 12.94-24.80], and for lower-middle-income countries vs upper-middle-income countries and HICs, 5.74 [95% CI, 4.30-7.68]). CONCLUSIONS AND RELEVANCE: This study is estimated to have included more than half of all new retinoblastoma cases worldwide in 2017. Children from LMICs, where the main global retinoblastoma burden lies, presented at an older age with more advanced disease and demonstrated a smaller proportion of familial history of retinoblastoma, likely because many do not reach a childbearing age. Given that retinoblastoma is curable, these data are concerning and mandate intervention at national and international levels. Further studies are needed to investigate factors, other than age at presentation, that may be associated with advanced disease in LMICs
