Journal Article

DKFZ-2019-00906

http://join2-wiki.gsi.de/foswiki/pub/Main/Artwork/join2_logo100x88.png Ectopic intracranial retinoblastoma in a 3.5-month-old infant without eye involvement and without evidence of heritability.

Römer, T. ; Temming, P. ; Lohmann, D. R. ; Sturm, D.DKFZ* ; von Deimling, A. ; Sellhaus, B. ; Mull, M. ; Kontny, U. ; Moser, O.

2019
Wiley New York, NY

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Please use a persistent id in citations: doi:10.1002/pbc.27599

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.

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Contributing Institute(s):

1. Pädiatrische Neuroonkologie (B062)

Research Program(s):

1. 312 - Functional and structural genomics (POF3-312) (POF3-312)

Appears in the scientific report 2019

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Database coverage:
; BIOSIS Previews ; Clarivate Analytics Master Journal List ; Current Contents - Clinical Medicine ; IF < 5 ; JCR ; NCBI Molecular Biology Database ; SCOPUS ; Science Citation Index ; Science Citation Index Expanded ; Web of Science Core Collection

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