Medulloblastoma in a child with Rubenstein-Taybi Syndrome: case report and review of the literature.
Pediatr Neurosurg
; 35(5): 235-8, 2001 Nov.
Article
de En
| MEDLINE
| ID: mdl-11741116
ABSTRACT
Although medulloblastoma is usually sporadic, there are a number of uncommon predisposing germline mutation syndromes, including Gorlin's Syndrome, Turcot's Syndrome and Li-Fraumeni Syndrome. Patients with Rubenstein-Taybi Syndrome secondary to mutation/deletion of the CBP gene on chromosome 16 are predisposed to a variety of developmental anomalies as well as cancer. We report a child with Rubenstein-Taybi syndrome who developed a cerebellar medulloblastoma and review the literature on Rubenstein-Taybi Syndrome and pediatric medulloblastoma. As the product of the CBP gene functions in a variety of signaling pathways, we discuss the molecular implications of findings a medulloblastoma in a child with Rubenstein-Taybi Syndrome.
Recherche sur Google
Collection:
01-internacional
Base de données:
MEDLINE
Sujet principal:
Malformations multiples
/
Tumeurs du cervelet
/
Médulloblastome
/
Déficience intellectuelle
Limites:
Humans
/
Infant
/
Male
Langue:
En
Journal:
Pediatr Neurosurg
Sujet du journal:
NEUROCIRURGIA
/
PEDIATRIA
Année:
2001
Type de document:
Article