title: Molecular and cytogenetic analysis of a cerebellar primitive neuroectodermal tumor with prominent neuronal differentiation: detection of MYCN amplification by differential polymerase chain reaction and Southern blot analysis.
abstract: Oncogene amplification is uncommon in cerebellar primitive neuroectodermal tumor (medulloblastoma) and its frequency and diversity are greater in medulloblastoma cell lines. We describe a medulloblastoma in a 10-year-old-girl with striking neuronal differentiation evident in the islands of ganglion cells intermixed with more primitive undifferentiated cells. The islands of ganglion cells showed prominent synaptophysin positivity. Karyotypic analysis revealed hypo- and hyperdiploidy with multiple random rearrangements and double minute chromosomes. Differential polymerase chain reaction and Southern blot analysis revealed up to 25-fold MYCN amplification.
authors.affiliation: Department of Pathology, Hospital for Sick Children, University of Toronto, Ontario, Canada.
authors.forename: V
authors.initials: V
authors.lastname: Jay
authors.forename: J
authors.initials: J
authors.lastname: Squire
authors.forename: M
authors.initials: M
authors.lastname: Zielenska
authors.forename: B
authors.initials: B
authors.lastname: Gerrie
authors.forename: R
authors.initials: R
authors.lastname: Humphreys
mesh_terms: D001483:Base Sequence; D015139:Blotting, Southern; D002454:Cell Differentiation / Q000235:genetics; D002528:Cerebellar Neoplasms / Q000235:genetics* / Q000473:pathology* / Q000648:ultrastructure; D002648:Child; D002869:Chromosome Aberrations / Q000235:genetics / Q000473:pathology; D025063:Chromosome Disorders; D004273:DNA, Neoplasm / Q000032:analysis*; D005260:Female; D016259:Genes, myc; D006801:Humans; D008969:Molecular Sequence Data; D018242:Neuroectodermal Tumors, Primitive / Q000235:genetics* / Q000473:pathology* / Q000648:ultrastructure; D011003:Ploidies; D016133:Polymerase Chain Reaction
chemical_list: D004273:DNA, Neoplasm