Words similar to medulloblastomas
Example sentences for: medulloblastomas
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APC mutations have been identified in medulloblastoma cell lines and up to 4% of sporadic medulloblastomas [ 16 17 ] . Furthermore, point mutations or small deletions in β- catenin exon 3 have been identified in 5-10% of sporadic medulloblastomas and in supratentorial primitive neuroectodermal tumors (PNETs) [ 17 18 19 ] . Finally, large deletions in AXIN were recently found in 12% of sporadic medulloblastomas [ 20 ] . In the absence of Wnt signaling β-catenin is sequestered in the cytoplasm, and nuclear translocation of β-catenin has been used to monitor activation of the Wnt pathway in a number of different tumor types.
The rational for this approach was the markedly increased incidence of medulloblastomas seen in PTCH heterozygotes deficient for p53, and the enhanced intestinal adenoma phenotype of p53 null, APC heterozygous Min mice [ 12 32 ] . We did not observe any significant phenotypic changes in the CNS of β-catenin transgenic animals heterozygous or homozygous for disruption of the p53 locus.
Mice heterozygous for PTCH and lacking p53 all developed medulloblastomas by 3 months of age [ 12 ] .
In man, three inherited syndromes associated with medulloblastomas have been described: Turcot's, Gorlin's and Li Fraumeni (reviewed in [ 1 ] ). Li Fraumeni syndrome is caused by inherited mutations in the p53 tumor suppressor gene.
Strain effects are unlikely to have played a role in this lack of a neoplastic phenotype, as mice with the same background as the one we used have previously been shown to develop medulloblastomas [ 12 ] . We further attempted to induce CNS tumors by abrogating p53 function in conjunction with transgenic β-catenin expression.
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