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Ectopic intracranial retinoblastoma in a 3.5-month-old infant without eye involvement and without evidence of heritability

Heritable retinoblastoma can rarely be associated with a midline intracranial neuroblastic tumor, referred to as trilateral retinoblastoma. We present an unusual midline brain tumor in an infant that was identified as ectopic retinoblastoma by histopathology, DNA methylation analysis, and molecular...

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Main Authors: Römer, Tristan (Author) , Sturm, Dominik (Author) , Deimling, Andreas von (Author)
Format: Article (Journal)
Language:English
Published: 02 January 2019
In: Pediatric blood & cancer
Year: 2019, Volume: 66, Issue: 5, Pages: e27599
ISSN:1545-5017
DOI:10.1002/pbc.27599
Online Access:Verlag, Volltext: https://doi.org/10.1002/pbc.27599
Verlag, Volltext: https://onlinelibrary.wiley.com/doi/abs/10.1002/pbc.27599
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Author Notes:Tristan Römer, Petra Temming, Dietmar R. Lohmann, Dominik Sturm, Andreas von Deimling, Bernd Sellhaus, Michael Mull, Udo Kontny, Olga Moser

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520 |a Heritable retinoblastoma can rarely be associated with a midline intracranial neuroblastic tumor, referred to as trilateral retinoblastoma. We present an unusual midline brain tumor in an infant that was identified as ectopic retinoblastoma by histopathology, DNA methylation analysis, and molecular genetic detection of biallelic somatic inactivation of the RB1 gene. There was no ocular involvement, and germline mutation was excluded. In this nonresectable tumor, treatment with systemic chemotherapy including high-dose therapy with autologous stem cell transplantation, but without definite local therapy, resulted in long-lasting tumor control. 
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