Eye Tumors in Childhood as First Sign of Tumor Predisposition Syndromes: Insights from an Observational Study Conducted in Germany and Austria.
DICER1 syndrome
cancer predisposition syndrome
ciliary body medulloepithelioma
genetic counseling
nevus Ota
retinal astrocytoma
retinoblastoma
uveal melanoma
Journal
Cancers
ISSN: 2072-6694
Titre abrégé: Cancers (Basel)
Pays: Switzerland
ID NLM: 101526829
Informations de publication
Date de publication:
14 Apr 2021
14 Apr 2021
Historique:
received:
03
02
2021
revised:
05
04
2021
accepted:
09
04
2021
entrez:
30
4
2021
pubmed:
1
5
2021
medline:
1
5
2021
Statut:
epublish
Résumé
Retinoblastoma and other eye tumors in childhood are rare diseases. Many eye tumors are the first signs of a genetic tumor predisposition syndrome and the affected children carry a higher risk of developing other cancers later in life. Clinical and genetic data of all children with eye tumors diagnosed between 2013-2018 in Germany and Austria were collected in a multicenter prospective observational study. In five years, 300 children were recruited into the study: 287 with retinoblastoma, 7 uveal melanoma, 3 ciliary body medulloepithelioma, 2 retinal astrocytoma, 1 meningioma of the optic nerve extending into the eye. Heritable retinoblastoma was diagnosed in 44% of children with retinoblastoma. One child with meningioma of the optic nerve extending into the eye was diagnosed with neurofibromatosis 2. No pathogenic constitutional variant in
Identifiants
pubmed: 33919815
pii: cancers13081876
doi: 10.3390/cancers13081876
pmc: PMC8070790
pii:
doi:
Types de publication
Journal Article
Langues
eng
Subventions
Organisme : Deutsche Kinderkrebsstiftung
ID : 2013.11
Organisme : Deutsche Kinderkrebsstiftung
ID : 2016.09
Organisme : Deutsche Kinderkrebsstiftung
ID : 2018.12
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