Retinoblastoma: A Three-Year-Study at a Brazilian Medical School Hospital

Abstract

OBJECTIVE: To present the characteristics and treatment outcomes of patients with retinoblastoma. METHODS: A retrospective case series was conducted to review the records of all new patients diagnosed with retinoblastoma between 2003 and 2005. Eyes with early disease, or advanced disease with potential vision were treated with chemotherapy (carboplatin and etoposide) in conjunction with early local therapy (laser or cryo). Radiotherapy was used in cases where the disease did not respond to the above protocols or in recurrent cases. Eyes in the late stage of disease with no potential vision in the initial examination or eyes and where conservative treatment had failed were enucleated. RESULTS: In total, we reviewed 28 new cases of retinoblastoma, 15 of which were unilateral and 13 of which were bilateral (46%). These data correspond to a mean of 9.3 new cases per year (0.77 case/ month). The mean age at diagnosis was 33.8 months for unilateral cases, and 19.15 months for bilateral cases (p=0.015). Leucocoria was the major presenting symptom (75%). All but one patient with unilateral disease had the affected eye enucleated due to advanced disease (mean follow-up: 39.91 months). Among the 13 bilateral cases, 13 eyes (50%) were enucleated, 11 eyes (42.4%) were saved with chemotherapy in conjunction with local therapy and 2 eyes (7.6%) were saved using external beam radiotherapy (mean follow-up: 41.91 months). In unilateral and bilateral disease, pathology data revealed choroid involvement in 50% and 30%, respectively, and optic nerve invasion in 92% and 50%, respectively. CONCLUSION: In this population, retinoblastoma was diagnosed too late and most eyes were consequently enucleated. In cases with bilateral disease, half of the eyes were preserved

Sanger Sequencing of Exon 14 of RB1 Gene Among North Indian Children with Retinoblastoma

“…In a study published in GeneReviews by Lohmann DR and Gallie BL (2000), it was revealed that approximately 60% of affected individuals exhibit unilateral retinoblastoma, with a mean age of diagnosis recorded at 24 months, while about 40% present with bilateral retinoblastoma, with a mean age of diagnosis reported at 15 months [2]. Similarly, our study also identified a statistically significant difference (p<0.001) in the mean age at diagnosis between unilateral and bilateral cases, a finding that was also observed by Bonanomi et al [14]. Considered one of the worldwide reported hotspots in a searchable database, mutations in exon 14 have garnered significant attention [11,[19][20][21][22].…”

Sanger Sequencing of Exon 14 of RB1 Gene Among North Indian Children with Retinoblastoma

“…In a study published in GeneReviews by Lohmann DR and Gallie BL (2000), it was revealed that approximately 60% of affected individuals exhibit unilateral retinoblastoma, with a mean age of diagnosis recorded at 24 months, while about 40% present with bilateral retinoblastoma, with a mean age of diagnosis reported at 15 months [2]. Similarly, our study also identified a statistically significant difference (p<0.001) in the mean age at diagnosis between unilateral and bilateral cases, a finding that was also observed by Bonanomi et al [14]. Considered one of the worldwide reported hotspots in a searchable database, mutations in exon 14 have garnered significant attention [11,[19][20][21][22].…”

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

“…Our study shows a male predominance (62%), which is similar to the gender distribution shown in reports from Mexico [10] (52.4%), Mali [16] (54.5%), Egypt [17] (60.25), and Jordan [18] (70.0%). There is a definite regional bias in studies from our country as males were generally preferred for treatment in earlier studies as well [3].…”

Retinoblastoma in Mongolia: Clinical characteristics and survival from 1987 to 2014

“…1 14 The age at initial diagnosis is: 23 months in China and 84% of them were diagnosed younger than 3 years, 25 months in Brazil, 25 months in Turkey, 23.9 months in India, 28.5 months in Iran, and 18 months in America. 3 5 7 11 12 13 In our case series, the median age of diagnosis was 24.5 months in Mongolia, similar to prior reports from other countries.…”

Sanger Sequencing of Exon 14 of RB1 Gene Among North Indian Children with Retinoblastoma

“…In a study published in GeneReviews by Lohmann DR and Gallie BL (2000), it was revealed that approximately 60% of affected individuals exhibit unilateral retinoblastoma, with a mean age of diagnosis recorded at 24 months, while about 40% present with bilateral retinoblastoma, with a mean age of diagnosis reported at 15 months [2]. Similarly, our study also identified a statistically significant difference (p<0.001) in the mean age at diagnosis between unilateral and bilateral cases, a finding that was also observed by Bonanomi et al [14]. Considered one of the worldwide reported hotspots in a searchable database, mutations in exon 14 have garnered significant attention [11,[19][20][21][22].…”

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

“…Our study shows a male predominance (62%), which is similar to the gender distribution shown in reports from Mexico [10] (52.4%), Mali [16] (54.5%), Egypt [17] (60.25), and Jordan [18] (70.0%). There is a definite regional bias in studies from our country as males were generally preferred for treatment in earlier studies as well [3].…”

Retinoblastoma in Mongolia: Clinical characteristics and survival from 1987 to 2014

“…1 14 The age at initial diagnosis is: 23 months in China and 84% of them were diagnosed younger than 3 years, 25 months in Brazil, 25 months in Turkey, 23.9 months in India, 28.5 months in Iran, and 18 months in America. 3 5 7 11 12 13 In our case series, the median age of diagnosis was 24.5 months in Mongolia, similar to prior reports from other countries.…”

Sanger Sequencing of Exon 14 of RB1 Gene Among North Indian Children with Retinoblastoma

“…In a study published in GeneReviews by Lohmann DR and Gallie BL (2000), it was revealed that approximately 60% of affected individuals exhibit unilateral retinoblastoma, with a mean age of diagnosis recorded at 24 months, while about 40% present with bilateral retinoblastoma, with a mean age of diagnosis reported at 15 months [2]. Similarly, our study also identified a statistically significant difference (p<0.001) in the mean age at diagnosis between unilateral and bilateral cases, a finding that was also observed by Bonanomi et al [14]. Considered one of the worldwide reported hotspots in a searchable database, mutations in exon 14 have garnered significant attention [11,[19][20][21][22].…”

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

“…Our study shows a male predominance (62%), which is similar to the gender distribution shown in reports from Mexico [10] (52.4%), Mali [16] (54.5%), Egypt [17] (60.25), and Jordan [18] (70.0%). There is a definite regional bias in studies from our country as males were generally preferred for treatment in earlier studies as well [3].…”

Retinoblastoma in Mongolia: Clinical characteristics and survival from 1987 to 2014

“…1 14 The age at initial diagnosis is: 23 months in China and 84% of them were diagnosed younger than 3 years, 25 months in Brazil, 25 months in Turkey, 23.9 months in India, 28.5 months in Iran, and 18 months in America. 3 5 7 11 12 13 In our case series, the median age of diagnosis was 24.5 months in Mongolia, similar to prior reports from other countries.…”