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Unusual Clinical Behavior of a Very Late Retinoblastoma Relapse in a Patient with a Germline RB Mutation
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  • Yogindra Persaud,
  • Marjilla Seddiq,
  • Yi-Mi Wu,
  • Dan Robinson,
  • Poulik Janet,
  • Sandeep Sood,
  • Deniz Altinok,
  • JOHN ROARTY ,
  • James Geller,
  • Rajen Mody,
  • Jeffrey Taub
Yogindra Persaud
Children's Hospital of Michigan

Corresponding Author:[email protected]

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Marjilla Seddiq
Children's Hospital of Michigan
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Yi-Mi Wu
University of Michigan
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Dan Robinson
University of Michigan
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Poulik Janet
Wayne State University
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Sandeep Sood
Wayne State University
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Deniz Altinok
Children's Hospital of Michigan
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JOHN ROARTY
Children's Hospital of Michigan
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James Geller
Cincinnati Children’s Hospital Medical Center
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Rajen Mody
University of Michigan
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Jeffrey Taub
Children's Hospital of Michigan
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Abstract

Retinoblastoma is the most common ocular tumor of childhood with cure rates exceeding 95%. Patients with high-risk features typically relapse within 3 years of diagnosis. We report a patient with low-risk bilateral retinoblastoma who suffered systemic relapse after eight years. His disease at first relapse was chemosensitive without PET avidity or bone marrow disease following therapy. Six months later, he experienced an isolated CNS relapse and succumbed to refractory disease. “Oncoseq” exome sequencing confirmed the presence of germline RB mutation among all tissues as well as somatic changes which may provide insights into the biology of relapse and tumor.
Aug 2021Published in Pediatric Blood & Cancer volume 68 issue 8. 10.1002/pbc.29064