Global Retinoblastoma Treatment Outcomes

Tomar, Ankit Singh; Finger, Paul T.; Gallie, Brenda L.; Kivelä, Tero; Mallipatna, Ashwin; Zhang, Chengyue; Zhao, Junyang; Wilson, Matthew W.; Brenna, Rachel C.; Burges, Michala; Kim, Jonathan; Khetan, Vikas; Ganesan, Suganeswari; Yarovoy, А.А.; Yarovaya, V.А.; Kotova, E.S.; Yousef, Yacoub A.; Nummi, Kalle; Ushakova, Tatiana L.; Yugay, Olga V.; Polyakov, V.G.; Ramirez-Ortiz, Marco A.; Esparza-Aguiar, Elizabeth; Chantada, Guillermo; Schaiquevich, Paula; Fandiño, Adriana; Yam, Jason C.; Lau, Winnie W. Y.; Lam, Carol P.; Sharwood, Phillipa; Moorthy, Sonia; Long, Quah Boon; Essuman, Vera Adobea; Renner, Lorna; Semenova, Ekaterina A.; Català, Jaume; Correa-Llano, Genoveva; Carreras, Elisa

doi:10.1016/j.ophtha.2020.09.032

Cited by 43 publications

(16 citation statements)

References 43 publications

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“…In a global study of 2085 patients from 18 retinoblastoma centres from 13 countries on six continents, including patients from LMIC, UMIC and HIC, it was noted that the metastasis-related mortality rate was 9-10 times higher in children from UMIC/LMIC compared to HIC. The risk of treatment failure (requiring enucleation or external beam radiotherapy) was two-fold higher in children from UMIC and LMIC compared to those from HIC [21]. Enucleation may not always be due to treatment failure but due to nonavailability of other treatment options such as intra-arterial or intra-vitreal chemotherapy in some countries.…”

Section: Discussionmentioning

confidence: 99%

Lag Time between Onset of First Symptom and Treatment of Retinoblastoma: An International Collaborative Study of 692 Patients from 10 Countries

Kaliki

Zou

et al. 2021

Cancers

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Background: The relationship between lag time and outcomes in retinoblastoma (RB) is unclear. In this study, we aimed to study the effect of lag time between onset of symptoms and diagnosis of retinoblastoma (RB) in countries based on their national-income and analyse its effect on the outcomes. Methods: We performed a prospective study of 692 patients from 11 RB centres in 10 countries from 1 January 2019 to 31 December 2019. Results: The following factors were significantly different among different countries based on national-income level: age at diagnosis of RB (p = 0.001), distance from home to nearest primary healthcare centre (p = 0.03) and mean lag time between detection of first symptom to visit to RB treatment centre (p = 0.0007). After adjusting for country income, increased lag time between onset of symptoms and diagnosis of RB was associated with higher chances of an advanced tumour at presentation (p < 0.001), higher chances of high-risk histopathology features (p = 0.003), regional lymph node metastasis (p < 0.001), systemic metastasis (p < 0.001) and death (p < 0.001). Conclusions: There is a significant difference in the lag time between onset of signs and symptoms and referral to an RB treatment centre among countries based on national income resulting in significant differences in the presenting features and clinical outcomes.

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Section: Discussionmentioning

confidence: 99%

Lag Time between Onset of First Symptom and Treatment of Retinoblastoma: An International Collaborative Study of 692 Patients from 10 Countries

Kaliki

Zou

et al. 2021

Cancers

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“…The distribution of age at diagnosis is determined by at least three components, the time of initiation, the time to reach a stage that causes signs or symptoms, and the time interval of parents or health caregivers to recognize these symptoms and act on them. These components are under the influence of other factors such as the location within the eye or social factors such as access to the medical resources required for diagnosis [58]. Of these components, the time of initiation and the time needed to reach a size that, in principle, permits clinical diagnosis may reflect the biological characteristic relevant for phenotypic variation, and its effect is blurred by the variation of non-biological factors.…”

Section: Discussionmentioning

confidence: 99%

Introduction of a Variant Classification System for Analysis of Genotype-Phenotype Relationships in Heritable Retinoblastoma

Hülsenbeck

Frank

Biewald

et al. 2021

Cancers

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Constitutional haploinsufficiency of the RB1 gene causes heritable retinoblastoma, a tumor predisposition syndrome. Patients with heritable retinoblastoma develop multiple retinoblastomas early in childhood and other extraocular tumors later in life. Constitutional pathogenic variants in RB1 are heterogeneous, and a few genotype-phenotype correlations have been described. To identify further genotype-phenotype relationships, we developed the retinoblastoma variant effect classification (REC), which considers each variant’s predicted effects on the common causal mediator, RB1 protein pRB. For validation, the RB1 variants of 287 patients were grouped according to REC. Multiple aspects of phenotypic expression were analyzed, known genotype-phenotype associations were revised, and new relationships were explored. Phenotypic expression of patients with REC-I, -II, and -III was distinct. Remarkably, the phenotype of patients with variants causing residual amounts of truncated pRB (REC-I) was more severe than patients with complete loss of RB1 (REC-II). The age of diagnosis of REC-I variants appeared to be distinct depending on truncation’s localization relative to pRB structure domains. REC classes identify genotype-phenotype relationships and, therefore, this classification framework may serve as a tool to develop tailored tumor screening programs depending on the type of RB1 variant.

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“…acute myeloid leukemia). 39 These side effects can be life threatening 40 as we lost one of our patient due to neutropenia associated septicemia.…”

Section: Discussionmentioning

confidence: 98%

Targeted chemotherapy in retinoblastoma: A step forward from patient survival to globe survival

Naseripour

Sedaghat

Mirshahi

et al. 2022

European Journal of Ophthalmology

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Background/ Objectives Despite being the most common intraocular malignancy in childhood, there is a substantial disparity between developing and developed countries in terms of patient and globe survival in retinoblastoma (Rb). The current study intends to determine patient and globe survival before and after the introduction of the new targeted treatment modalities in a developing country. Methods Medical records of 350 patients (516 eyes) with retinoblastoma referred to a tertiary referral center for Rb in Tehran, Iran, were reviewed. In order to compare patient and globe survival before and after the availability of the new treatment modalities, including intra-arterial and intravitreal chemotherapy, the patients were divided into group 1 (2001–2007) and group 2 (2008–2018) based on the calendar period of diagnosis. Results Two-hundred-twenty-three eyes of 149 patients and 293 eyes of 201 patients were categorized into groups 1 and 2, respectively. The 5-year patient survival was 97% across the current survey, and the overall survival rate was 96% in group 1 and 99% in group 2 (P = 0.08). Overall, 50% of eyes with retinoblastoma underwent enucleation, which was the primary in 63% (116/184) of the unilateral and 30% (99/322) of the bilateral cases. Primary enucleation was significantly lower in group 2 (35%) in contrast to group 1 (50%) (P < 0.001). In addition, globe survival improved significantly in the International Classification of Retinoblastoma Groups D (17% in group 1 vs. 66% in group 2, P < 0.001) and E (1% in group 1 vs. 23% in group 2 P < 0.001) during the two timelines. In enucleated eyes, despite the increased rate of prelaminar involvement in group 2 (13% vs. 2% in group 1, P = 0.003), the rate of high-risk histopathologic findings was similar between the two groups. Conclusion Similar to developed countries, the application of new targeted treatment modalities, including intra-arterial and intravitreal chemotherapy, has been associated with significantly improved globe survival in Rb patients. However, it should be noted that even with the availability of these novel treatment options, the decision for on-time enucleation should not be deferred.

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Global Retinoblastoma Treatment Outcomes

Cited by 43 publications

References 43 publications

Lag Time between Onset of First Symptom and Treatment of Retinoblastoma: An International Collaborative Study of 692 Patients from 10 Countries

Lag Time between Onset of First Symptom and Treatment of Retinoblastoma: An International Collaborative Study of 692 Patients from 10 Countries

Introduction of a Variant Classification System for Analysis of Genotype-Phenotype Relationships in Heritable Retinoblastoma

Targeted chemotherapy in retinoblastoma: A step forward from patient survival to globe survival

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