Medulloblastoma in a child with Rubenstein-Taybi Syndrome: case report and review of the literature.
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.
Taylor
M D
MD
The Hospital for Sick Children, 555 University Avenue, Toronto, Ontario, M5G 1X8 Canada.
Mainprize
T G
TG
Rutka
J T
JT
Becker
L
L
Bayani
J
J
Drake
J M
JM
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