Ectopic intracranial retinoblastoma in a 3.5-month-old infant without eye involvement and without evidence of heritability.
DNA methylation analysis
RB1 mutation
ectopic retinoblastoma
high-dose chemotherapy
Journal
Pediatric blood & cancer
ISSN: 1545-5017
Titre abrégé: Pediatr Blood Cancer
Pays: United States
ID NLM: 101186624
Informations de publication
Date de publication:
05 2019
05 2019
Historique:
received:
20
11
2018
accepted:
17
12
2018
pubmed:
4
1
2019
medline:
30
11
2019
entrez:
4
1
2019
Statut:
ppublish
Résumé
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.
Substances chimiques
RB1 protein, human
0
Retinoblastoma Binding Proteins
0
Ubiquitin-Protein Ligases
EC 2.3.2.27
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
e27599Informations de copyright
© 2019 Wiley Periodicals, Inc.