title: Isochromosome 17q, MYC amplification and large cell/anaplastic phenotype in a case of medullomyoblastoma with extracranial metastases.
abstract: Medullomyoblastoma (MMB) is a rare variant of medulloblastoma, a member of the family of central nervous system (CNS) embryonal tumors. The outcome of standard therapy for CNS embryonal tumors is often unpredictable in the setting of MMB. Here, we present the clinical course and treatment of an almost 4-year-old girl with MMB that was characterized by MYC amplification, isochromosome 17q and large cell/anaplastic histopathology.
authors.affiliation: Department of Oncology, Division of Neuro-Oncology, St. Jude Children's Research Hospital, Memphis, Tennessee 38105-3678, USA. karen.wright@stjude.org
authors.forename: Karen D
authors.initials: KD
authors.lastname: Wright
authors.forename: Kendra
authors.initials: K
authors.lastname: von der Embse
authors.forename: Jamie
authors.initials: J
authors.lastname: Coleman
authors.forename: Zoltan
authors.initials: Z
authors.lastname: Patay
authors.forename: David W
authors.initials: DW
authors.lastname: Ellison
authors.forename: Amar
authors.initials: A
authors.lastname: Gajjar
mesh_terms: D002528:Cerebellar Neoplasms / Q000235:genetics* / Q000473:pathology / Q000628:therapy; D002675:Child, Preschool; D002886:Chromosomes, Human, Pair 17; D005260:Female; D005784:Gene Amplification; D016259:Genes, myc; D006801:Humans; D018404:Isochromosomes; D008527:Medulloblastoma / Q000235:genetics* / Q000473:pathology / Q000628:therapy; D009362:Neoplasm Metastasis; D011379:Prognosis