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Changing Trends in Retinoblastoma Management and What Is in Store for the Future

  • Jesse L. BerryEmail author
Chapter

Abstract

Retinoblastoma (Rb) is the most common intraocular cancer of childhood with an incidence of 1 in 15,000 live births or about 12 per million children ages 0–4 years [1, 2]. Retinoblastoma accounts for 2% of all childhood cancers and approximately 8% percent of cancer in the first 4 years of life [3]. Worldwide there are 9000 new cases annually with the greatest number of cases seen in Asia and Africa where the birth rate is higher [4]. However the rate per live birth remains the same and no significant gender or racial predilection for the development of Rb has been described [5]. Maternal nutrition [6], HPV infection [7, 8], and advanced paternal age [9] have been suggested as predisposing etiologies but have not been definitively confirmed. Worldwide, the survival of children with retinoblastoma has improved [10] however disparities in the treatment and survival of children with this ocular cancer remain [11–16]. The treatment of Retinoblastoma continues to evolve with a focus on more localized therapies to spare systemic toxicity. Nonetheless, there remains a critical need for personalized therapies for retinoblastoma. Retinoblastoma was one of the first cancers with a known genetic underpinning due to a mutation in the RB1 retinoblastoma tumor suppressor gene (RB1) [17, 18], and has provided enormous insights into cancer biology; however, because this tumor cannot be safely biopsied, we still know very little about the genetic, genomic and epigenetic changes in this tumor that may affect treatment and prognosis for eye salvage [19]. This chapter will discuss the diagnosis, staging, and current treatment paradigms for retinoblastoma as well as discuss the future of this disease.

Keywords

Retinoblastoma Optical coherence tomography Intravitreal melphalan Intravitreal chemotherapy Toxicity Personalized medicine Cell-free DNA Invisible tumors Cone precursors Tumor-suppressor gene 

Notes

Acknowledgments

Dr. Berry has grant support from the National Cancer Institute of the National Institute of Health Award Number K08CA232344, The Robert E. and May R. Wright Foundation, The Knights Templar Eye Foundation, the American Cancer Society #IRG-16-181-57, Hyundai Hope on Wheels and the Childhood Eye Cancer Trust.

Disclosure Statement The authors have no financial disclosures or conflicts of interests to disclose regarding the materials presented herein.

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Copyright information

© Springer Nature Singapore Pte Ltd. 2020

Authors and Affiliations

  1. 1.The Vision CenterChildren’s Hospital Los AngelesLos AngelesUSA
  2. 2.Department of Ophthalmology, USC Roski Eye InstituteKeck School of Medicine of the University of Southern CaliforniaLos AngelesUSA

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