title: Cytogenetics of pineoblastoma: four new cases and a literature review.
abstract: Pineoblastoma represents a class of primitive neuroectodermal tumors (PNET) with poorly differentiated neuroepithelial cells that are histologically indistinguishable from medulloblastomas. It is a rare tumor, typically arising in childhood, and to date only a few cytogenetic cases have been published. We report four new cases in which conventional cytogenetics demonstrated the presence of an abnormal clone. The tumors showed a variety of ploidy levels, from hypodiploid to hypertetraploid. Both structural and numerical aberrations were frequent, and in three out of the four cases a large degree of cell-to-cell variation was observed. The most frequently involved chromosome in structural rearrangements was chromosome 1, observed in three of the four cases. The short arm was involved in two of the three cases; in the third case, the anomaly was in the long arm. Two cases showed unbalanced gain of chromosome 17q, one of them showing i(17)(q10). Together, the four cases illustrate the complex karyotypic nature of this tumor type and represent a step toward determining whether a nonrandom cytogenetic picture exists and how this may be related to other associated tumor types.
authors.affiliation: Department of Oncology, University Children's Hospital, Zurich, Switzerland.
authors.forename: Angela E
authors.initials: AE
authors.lastname: Brown
authors.forename: Kurt
authors.initials: K
authors.lastname: Leibundgut
authors.forename: Felix K
authors.initials: FK
authors.lastname: Niggli
authors.forename: David R
authors.initials: DR
authors.lastname: Betts
mesh_terms: D000293:Adolescent; D000782:Aneuploidy; D001932:Brain Neoplasms / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D002869:Chromosome Aberrations; D002878:Chromosomes, Human, Pair 1; D005260:Female; D006801:Humans; D010870:Pineal Gland; D010871:Pinealoma / Q000235:genetics*