• 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.

• 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.

• Radiation Oncology Journal
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• v.8 no.2
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• pp.169-176
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• 1990

Radiotherapy result was analyzed in 23 children with retinoblastoma treated in Seoul National University Hospital from 1980 to 1987. Three ($17\%$) had bilateral tumor at diagnosis. Among 20 children with unilateral retinoblastoma 13 children got radiotherapy after enucleation, 2 were treated with radiotherapy alone, and 5 were delivered with radiotherapy after relapse. Of 15 non-recurrent unilateral tumors, there were 5 stage II children, 8 stage III, and 2 stage IV by staging system proposed by St. Jude Children's Research Hospital. Chemotherapy was combined when resection margin of the optic nerve was positive or when malignant cell was found in CSF. Of 12 children who completed radiotherapy, local or distant failure was not found but 2 cases of relapse at the contralateral retina were observed. Their 5 year survival rate was $82.2\%$. Another case of contralateral relapse was detected in children who was treated with radiotherapy alone. Thus overall frequency of the bilateral disease was $33\%$. Prognosis of recurrent tumors were so poor that no cases of CR was obtained and that 3 year survival rate was $20\%$. Two of 3 bilateral cases at diagnosis were in NED status. Complication were sunken orbit only. Result of radiotherapy was so good in early stage or small bulk tumor that treatment delay after diagnosis must not be allowed.

• Clinical and Experimental Pediatrics
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• v.52 no.6
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• pp.674-679
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• 2009

Purpose : The authors aimed to analyze the long-term effects of treatments, especially external beam radiotherapy (EBRT), in bilateral retinoblastoma patients. Methods : This retrospective study analyzed the medical records of 22 bilateral retinoblastoma patients who were registered between October, 1987 and October, 1998 and followed-up for more than 10 years. They were treated by enucleation, EBRT, and systemic chemotherapy. Age at diagnosis, sex, delay prior to treatment, Reese-Ellsworth (RE) classification, and the local treatment modalities were analyzed in relation to recurrence-free survival (RFS) and complications. Results : Median age at diagnosis was 7.0 months (range 1.7-31.6 months). Leukocoria was the most common presenting feature. Two patients had a familial history. The RE classifications of the 44 eyes were group II in 4, III in 14, IV in 4, and V in 22. At the end of a median follow-up period of 141 months (range 55-218 months), 20 patients were alive. The 10-year ocular survival rate of the 44 eyes was $56.8{\pm}7.5%$. The 10-year RFS and ocular survival rate of the 29 eyes treated by combined EBRT and chemotherapy were 75.9% and 86.2%, respectively. Treatment delay (>3 months) was found to be related to higher risk of recurrence. Complications after EBRT were cataract, retinal detachment, phthisis bulbi, and facial asymmetry. No patient developed a second malignancy during the follow-up period. Conclusion : Early detection and prompt treatment can increase ocular survival rates. In addition, careful attention should be paid to possible long-term sequelae in these patients.

• The Journal of Korea Assosiation for Disability and Oral Health
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• v.6 no.2
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• pp.112-115
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• 2010

Chemotherapy and radiotherapy proved conservative and effective in treating tumors. However, both the cancer therapies will also have aberrant effects on developing maxillofacial and dental organs of children. The purpose of this report is to describe the clinical cases of Disturbances of maxillofacial and dental development after Cancer therapy. The first case reported a 7-year-old female patient diagnosed at age 2 years with bilateral retinoblastoma, receiving chemotherapy and radiotherapy. She had agenesis of premolar, microdontia, short tapered teeth in lower anterior area and generalized root stunting. The second case presented a 12-year-old female patient treated with chemotherapy and radiotherapy for neuroblastoma in her early childhood. She presented with a class III malocclusion on a skeletal III base due to maxillary retrognathism. Contemporay oncology had improved survival of children with malignant disease. It will be needed prevention of these side effect after cancer therapy to improve the quality of life.

• Journal of the korean academy of Pediatric Dentistry
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• v.32 no.2
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• pp.251-255
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• 2005

Radiotherapy for head and neck tumors is a viable treatment modality. However, a wide range of potentially debilitating dental complications may be accompanied by this treatment. We report two cases of developmental disturbance of permanent tooth germs after radiotherapy. The one was that of a seven-year-old girl, who had congenitally missing teeth, and microdontia of permanent tooth germs. she had received radiotherapy for acute myelocytic leukemia at the age of 19 months. The other was that of a nine-year-old boy, in which congenitally missing teeth, microdontia, root hypoplasia, and enamel hypoplasia of permanent teeth were observed. He had undergone a course of radiotherapy for bilateral retinoblastoma at the age of 13 months.