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(American Journal of Pathology. 2000;156:433-437.)
© 2000 American Society for Investigative Pathology

Short Communications

APC Mutations in Sporadic Medulloblastomas

Huatao Huang*, Betania M. Mahler-Araujo*, Anna Sankila*, Leila Chimelli{dagger}, Yasuhiro Yonekawa{ddagger}, Paul Kleihues* and Hiroko Ohgaki*

From the International Agency for Research on Cancer,*
Lyon, France; the Department of Pathology,{dagger}
University Hospital, Federal University of Rio de Janeiro, Rio de Janeiro, Brazil; and the Department of Neurosurgery,{ddagger}
University Hospital Zurich, Zurich, Switzerland

The cerebellar medulloblastoma (WHO Grade IV) is a highly malignant, invasive embryonal tumor with preferential manifestation in children. Several molecular alterations appear to be involved, including isochromosome 17q and the p53, PTCH, and ß-catenin gene mutations. In this study, 46 sporadic medulloblastomas were screened for the presence of mutations in genes of the Wnt signaling pathway (APC and ß-catenin). Single-strand conformational polymorphism (SSCP) analysis followed by direct DNA sequencing revealed 3 miscoding APC mutations in 2 (4.3%) medulloblastomas. One case contained a GCA->GTA mutation at codon 1296 (Ala->Val), and another case had double point mutations at codons 1472 (GTA->ATA, Val->Ile) and 1495 (AGT->GGT, Ser->Gly). Miscoding ß-catenin mutations were detected in 4 tumors (8.7%). Three of these were located at codon 33 (TCT ->TTT, Ser->Phe) and another at codon 37 (TCT->GCT, Ser->Ala). Adenomatous polyposis coli (APC) gene and ß-catenin mutations were mutually exclusive and occurred in a total of 6 of 46 cases (13%). Although germline APC mutations are a well established cause of familial colon and brain tumors (Turcot syndrome), this study provides the first evidence that APC mutations are also operative in a subset of sporadic medulloblastomas.




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