title: Chromosome 17 abnormalities in pediatric neuroblastic tumor with abundant neuropil and true rosettes.
abstract: Although as a group, embryonal central nervous system tumors share a common background of primitive round cells, numerous distinctive histologic features allow for further subclassification. One tumor with a unique microscopic appearance is the recently described pediatric neuroblastic tumor with abundant neuropil and true rosettes (PNTANTR). We report 2 additional cases of this unusual tumor; both arose in 4-year-old children, one a midpontine tumor and the other a large cerebral lesion. The tumors contained hypercellular sheets of undifferentiated cells, broad zones of neuropil, and scattered perivascular, Homer Wright, and multilayered ependymoblastic-like rosettes. Isochromosome 17q was detected in multiple samples from one tumor, while the other tumor showed polysomy 17. No deletions of INI1 or amplifications of MYC or MYCN were detected. This report adds 2 cases to our experience of PNTANTR and is the first to demonstrate isochromosome 17q, a molecular alteration typical of medulloblastomas.
authors.affiliation: Department of Pathology, St Jude Children's, Research Hospital, Memphis, TN, USA.
authors.forename: Christine
authors.initials: C
authors.lastname: Fuller
authors.forename: Maryam
authors.initials: M
authors.lastname: Fouladi
authors.forename: Amar
authors.initials: A
authors.lastname: Gajjar
authors.forename: James
authors.initials: J
authors.lastname: Dalton
authors.forename: R Alex
authors.initials: RA
authors.lastname: Sanford
authors.forename: Kathleen J
authors.initials: KJ
authors.lastname: Helton
mesh_terms: D001921:Brain / Q000000981:diagnostic imaging / Q000473:pathology*; D001932:Brain Neoplasms / Q000235:genetics / Q000473:pathology* / Q000628:therapy; D002675:Child, Preschool; D002869:Chromosome Aberrations; D002886:Chromosomes, Human, Pair 17; D003131:Combined Modality Therapy; D017809:Fatal Outcome; D005260:Female; D019084:Fluorescent Antibody Technique, Indirect; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008279:Magnetic Resonance Imaging; D008297:Male; D009447:Neuroblastoma / Q000235:genetics / Q000473:pathology* / Q000628:therapy; D018242:Neuroectodermal Tumors, Primitive / Q000235:genetics / Q000473:pathology* / Q000628:therapy; D014057:Tomography, X-Ray Computed