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APC and CTNNB1 mutations are rare in sporadic ependymomas

Lookup NU author(s): Olabisi Onilude, Dr Meryl Lusher, Dr Janet Lindsey, Professor Andrew Pearson, Professor David Ellison, Professor Steven CliffordORCiD


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The ependymoma is the second most common malignant brain tumor of childhood; however, its molecular basis is poorly understood. The formation of multiple ependymomas has been reported as an occasional feature of Turcot syndrome type 2 (TS2), a familial cancer syndrome caused by inherited mutations of the APC tumor suppressor gene, and characterised by the concurrence of a primary CNS tumor (predominantly medulloblastoma) and multiple colorectal adenomas. APC is a critical component of the Wnt/Wingless signaling pathway, which is disrupted in sporadic cancers (e.g., colorectal adenomas, hepatocellular carcinomas, and medulloblastomas) by somatic mutations affecting multiple genes encoding alternative pathway components, including APC and CTNNB1 (encoding β-catenin). To investigate any role for genetic disruption of the Wnt/Wingless pathway in sporadic ependymomas, we performed mutation analysis of APC and CTNNB1 in 77 primary tumors. Two synonymous APC polymorphisms (PRO1442PRO; THR1493THR) were identified, which were detected at equivalent rates in ependymomas and control nonneoplastic DNA samples (n = 50); however, no further APC or CTNNB1 sequence variations were found. In summary, although inherited APC mutations may be associated with ependymoma development in certain TS2 cases, these data indicate that somatic mutations affecting APC and CTNNB1 do not play a major role in the pathogenesis of sporadic ependymomas. © 2006 Elsevier Inc. All rights reserved.

Publication metadata

Author(s): Onilude OE, Lusher ME, Lindsey JC, Pearson ADJ, Ellison DW, Clifford SC

Publication type: Article

Publication status: Published

Journal: Cancer Genetics and Cytogenetics

Year: 2006

Volume: 168

Issue: 2

Pages: 158-161

ISSN (print): 0165-4608

ISSN (electronic): 1873-4456


DOI: 10.1016/j.cancergencyto.2006.02.019

PubMed id: 16843107


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