title: Medulloblastoma in a child with Rubenstein-Taybi Syndrome: case report and review of the literature.
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.
authors.affiliation: The Hospital for Sick Children, 555 University Avenue, Toronto, Ontario, M5G 1X8 Canada.
authors.forename: M D
authors.initials: MD
authors.lastname: Taylor
authors.forename: T G
authors.initials: TG
authors.lastname: Mainprize
authors.forename: J T
authors.initials: JT
authors.lastname: Rutka
authors.forename: L
authors.initials: L
authors.lastname: Becker
authors.forename: J
authors.initials: J
authors.lastname: Bayani
authors.forename: J M
authors.initials: JM
authors.lastname: Drake
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology / Q000601:surgery; D002455:Cell Division / Q000502:physiology; D002528:Cerebellar Neoplasms / Q000235:genetics* / Q000473:pathology / Q000601:surgery; D002531:Cerebellum / Q000473:pathology / Q000601:surgery; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics* / Q000473:pathology / Q000601:surgery; D008279:Magnetic Resonance Imaging; D008297:Male; D008527:Medulloblastoma / Q000235:genetics* / Q000473:pathology / Q000601:surgery; D013577:Syndrome; D014057:Tomography, X-Ray Computed