Clinical Profile, Management, and Outcome of Retinoblastoma in Singapore

Lim, Fiona; Soh, Shui Yen; Iyer, Jessica R.; Tan, Ah Moy; Handa, Swati; Quah, Boon Long

doi:10.3928/01913913-20121211-01

Cited by 26 publications

(23 citation statements)

References 26 publications

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“…The mean age at presentation of the disease in our data set of 59 cases (22.1± 16.5 months) was slightly lower than what was reported in a previous clinical study on 51 Singaporean patients (25.7± 19.9 months) [4]. However, the overall frequency of bilateral cases in our study (30.5%, 18/59) was similar to the above study (31.4%, 16/51) [4].…”

Section: Resultscontrasting

confidence: 70%

“…The global incidence of this disease is 1 case in 15,000 to 20,000 live births [1] with the average annual incidence in Singapore reported as 2.4 to 11.1 cases per million children [2,3] occurring equally among males and females [4]. On a global scale, an estimated 3001 to 3376 children die due to retinoblastoma annually [1].…”

Section: Introductionmentioning

confidence: 99%

“…The mortality rate in Asia (39%) is much higher than that of Europe, Canada, and the USA (3–5%) [1] due to the gap in healthcare access which primarily refers to the fact that majority of RB patients are diagnosed in low‑ and middle‑income countries, whereas the bulk of retinoblastoma-specific health care facilities are available in high‑income countries [5]. In more developed countries in Asia such as in Singapore, the overall 5-year survival rate can be much higher ranging between 88.1% to 91% [3,4]. …”

Section: Introductionmentioning

confidence: 99%

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Mutation spectrum of RB1 mutations in retinoblastoma cases from Singapore with implications for genetic management and counselling

et al. 2017

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Retinoblastoma (RB) is a rare childhood malignant disorder caused by the biallelic inactivation of RB1 gene. Early diagnosis and identification of carriers of heritable RB1 mutations can improve disease outcome and management. In this study, mutational analysis was conducted on fifty-nine matched tumor and peripheral blood samples from 18 bilateral and 41 unilateral unrelated RB cases by a combinatorial approach of Multiplex Ligation-dependent Probe Amplification (MLPA) assay, deletion screening, direct sequencing, copy number gene dosage analysis and methylation assays. Screening of both blood and tumor samples yielded a mutation detection rate of 94.9% (56/59) while only 42.4% (25/59) of mutations were detected if blood samples alone were analyzed. Biallelic mutations were observed in 43/59 (72.9%) of tumors screened. There were 3 cases (5.1%) in which no mutations could be detected and germline mutations were detected in 19.5% (8/41) of unilateral cases. A total of 61 point mutations were identified, of which 10 were novel. There was a high incidence of previously reported recurrent mutations, occurring at 38.98% (23/59) of all cases. Of interest were three cases of mosaic RB1 mutations detected in the blood from patients with unilateral retinoblastoma. Additionally, two germline mutations previously reported to be associated with low-penetrance phenotypes: missense-c.1981C>T and splice variantc.607+1G>T, were observed in a bilateral and a unilateral proband, respectively. These findings have implications for genetic counselling and risk prediction for the affected families. This is the first published report on the spectrum of mutations in RB patients from Singapore and shows that further improved mutation screening strategies are required in order to provide a definitive molecular diagnosis for every case of RB. Our findings also underscore the importance of genetic testing in supporting individualized disease management plans for patients and asymptomatic family members carrying low-penetrance, germline mosaicism or heritable unilateral mutational phenotypes.

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Section: Resultscontrasting

confidence: 70%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Mutation spectrum of RB1 mutations in retinoblastoma cases from Singapore with implications for genetic management and counselling

et al. 2017

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“…Family history of retinoblastoma was present in 19 patients (4.09%), and this figure is comparable to 6.67% in Singapore [22] and 4.8% in Iran [23]. Eleven percent of patients were aged more than 5 years at presentation, which is higher than 3.5% reported from Brazil [17].…”

Section: Discussionmentioning

confidence: 73%

Retinoblastoma: A Sixteen-Year Review of the Presentation, Treatment, and Outcome from a Tertiary Care Institute in Northern India

Singh¹,

Katoch²,

Kaur³

et al. 2017

Ocul Oncol Pathol

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Purpose: To study epidemiology, demographic profile, clinical characteristics, and outcome in pediatric patients with retinoblastoma. Methods: This was a retrospective review of retinoblastoma patients of a tertiary institute from January 1st 1998 to December 31st 2014. Results: The study included 467 patients (618 eyes) with a mean age of 34.7 ± 24.6 months (median = 30; 15 days to 144 months). Retinoblastoma was bilateral in 151 (32.3%) and there were 61.7% males. Intraocular disease was seen in 301 patients (451 eyes [72.9%]) and extraocular in 166 patients (167 eyes; 27.0%). Out of the 347 (74.3%) who received treatment, primary treatment was chemoreduction in 228 (65.7%) and enucleation in 117 (33.7%), while 25.6% of patients refused treatment and 151 (43.5%) defaulted therapy. Local recurrence was seen in 20 (4.3%), metastasis in 2 (0.4%), and deaths in 13 (2.8%) (average follow-up 28.5 ± 44.4 months). Histopathological high risk features were significantly less in the eyes that received chemoreduction (5.0%) versus primary enucleation (20.8%) (p < 0.0004), but there was no difference in the rate of metastasis, recurrence, and death between the two. Conclusions: The majority of retinoblastoma patients in our study had advanced disease, and nearly a third had extraocular extension. There were a significant number of therapy refusals and dropouts. Chemoreduction led to a significant decrease in the histopathological risk factors without affecting the outcomes.

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“…This approach involves The initial reports on IVC for retinoblastoma led the way to a new era for retinoblastoma management [5][6][7][8]. Since then, there have been numerous publications on the efficacy of IVC for retinoblastoma from around the world [28][29][30][31][32][33]. The indications for various chemotherapy protocols can vary in different retinoblastoma centers.…”

Section: Chemotherapy For Retinoblastoma: Overviewmentioning

confidence: 99%