title: Use of multicolor spectral karyotyping in genetic analysis of pleuropulmonary blastoma.
abstract: Pleuropulmonary blastoma (PPB) is a rare, malignant intrathoracic pediatric tumor. It arises from the lung, pleura, or mediastinum and its pathogenesis and relationship to other pediatric solid tumors is not well understood. In this study, a case of PPB in a 3-year-old girl was studied using a combination of molecular genetic methods and cytogenetics. Molecular analysis of the commonly encountered fusion translocation gene products of pediatric solid tumors failed to detect a rearrangement. Cytogenetic analysis, supplemented by multicolor spectral karyotyping (SKY), identified an unbalanced translocation between chromosomes 1 and X, resulting in additional copies of 1q, an extra copy of Xq, and loss of part of Xp. In addition, trisomy 8 was detected. The identification of new chromosomal alterations and confirmation of previously reported ones in this rare neoplasm helps to improve our understanding of its pathogenesis and association with other pediatric tumors.
authors.affiliation: Department of Pediatric Laboratory Medicine, The Hospital for Sick Children, 555 University Avenue, Toronto, Ontario, Canada M5G 1X8.
authors.forename: M
authors.initials: M
authors.lastname: Barnard
authors.forename: J
authors.initials: J
authors.lastname: Bayani
authors.forename: R
authors.initials: R
authors.lastname: Grant
authors.forename: I
authors.initials: I
authors.lastname: Teshima
authors.forename: P
authors.initials: P
authors.lastname: Thorner
authors.forename: J
authors.initials: J
authors.lastname: Squire
mesh_terms: D002675:Child, Preschool; D002878:Chromosomes, Human, Pair 1; D004273:DNA, Neoplasm / Q000032:analysis; D005260:Female; D006801:Humans; D007621:Karyotyping / Q000379:methods*; D008175:Lung Neoplasms / Q000235:genetics* / Q000473:pathology / Q000628:therapy; D018202:Pulmonary Blastoma / Q000235:genetics* / Q000473:pathology / Q000628:therapy; D014178:Translocation, Genetic; D016896:Treatment Outcome; D014960:X Chromosome
chemical_list: D004273:DNA, Neoplasm