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@ARTICLE{Rmer:143316,
author = {T. Römer and P. Temming and D. R. Lohmann and D. Sturm$^*$
and A. von Deimling and B. Sellhaus and M. Mull and U.
Kontny and O. Moser},
title = {{E}ctopic intracranial retinoblastoma in a 3.5-month-old
infant without eye involvement and without evidence of
heritability.},
journal = {Pediatric blood $\&$ cancer},
volume = {66},
number = {5},
issn = {1545-5017},
address = {New York, NY},
publisher = {Wiley},
reportid = {DKFZ-2019-00906},
pages = {e27599},
year = {2019},
abstract = {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.},
cin = {B062},
ddc = {610},
cid = {I:(DE-He78)B062-20160331},
pnm = {312 - Functional and structural genomics (POF3-312)},
pid = {G:(DE-HGF)POF3-312},
typ = {PUB:(DE-HGF)16},
pubmed = {pmid:30604586},
doi = {10.1002/pbc.27599},
url = {https://inrepo02.dkfz.de/record/143316},
}