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Introduction Introduction
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Presenting signs and symptoms Presenting signs and symptoms
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Biology Biology
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Histology Histology
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Diagnostics and extent of disease evaluation Diagnostics and extent of disease evaluation
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Grouping and staging Grouping and staging
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Imaging studies Imaging studies
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Ancillary studies Ancillary studies
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Treatment Treatment
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Surgery Surgery
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Focal therapies Focal therapies
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Radiotherapy Radiotherapy
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Chemotherapy Chemotherapy
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Tumour chemoreduction for conservative treatment Tumour chemoreduction for conservative treatment
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Adjuvant chemotherapy for high-risk stage I and II disease Adjuvant chemotherapy for high-risk stage I and II disease
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Treatment of overt extraocular retinoblastoma (stages III and IV) Treatment of overt extraocular retinoblastoma (stages III and IV)
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Second malignancies in retinoblastoma survivors Second malignancies in retinoblastoma survivors
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Further reading Further reading
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31 C31Retinoblastoma
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Published:September 2020
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Abstract
Retinoblastoma is the most common paediatric ocular malignancy. Its disease-free survival rate in developed countries is higher than 95%, but in the developing world this tumour presents with advanced disease leading to poorer outcome. Late diagnosis and problems with compliance for treatment affect the outcome in that setting. Retinoblastoma may occur in children with germline mutations of the RB1 gene, who usually present with bilateral heritable disease. In those with somatic mutations, it always presents as unilateral and non-hereditable disease. The former have a higher susceptibility for secondary malignancies occurring later in life. Enucleation of the affected eyeball is often curative when the disease presents intraocularly, but conservative therapies have evolved from conventional external photon-beam radiotherapy, which was associated with severe long-term toxicity, to chemotherapy plus local treatments. Recently, local intra-arterial and intravitreal chemotherapy has been more intensively used, leading to higher preservation rates.
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