title: Intracranial teratoma in children: the role of chromosome 21 trisomy.
abstract: Teratomas are very rare intracranial tumors and cytogenetic information on this group remains rare. We report a case of a mature teratoma with abnormal +21 trisomy in tumor karyotype ocurring in a non-Down syndrome(DS) infant. Additionally, the evidence for the contribution of chromosome 21 trisomy in this neoplasia are briefly reviewed. The 6-month-old male baby presented with a posterior fossa tumor. Histological evaluation of tumor specimen showed a mature teratoma composed of fully differentiated ectodermal, mesodermal and endodermal components. Although somatic karyotyping of the index case was normal, composite tumor karyotype depicted 47,XY,+21[6]/46,XY[6]. Besides previous reports of children with DS and intracranial teratomas, this is the first report to describe the occurrence of an isolated chromosome 21 trisomy within the tumor of a non-DS child. The participation of chromosome 21 in this rare pediatric tumor, either somatic or restricted to tumor specimen,may deserve special interest and further investigation.
authors.forename: Sabrine Teixeira
authors.initials: ST
authors.lastname: Ferraz
authors.forename: Elvis Terci
authors.initials: ET
authors.lastname: Valera
authors.forename: María Sol
authors.initials: MS
authors.lastname: Brassesco
authors.forename: Ricardo
authors.initials: R
authors.lastname: Santos de Oliveira
authors.forename: Antonio
authors.initials: A
authors.lastname: Carlos dos Santos
authors.forename: Fabiano Pinto
authors.initials: FP
authors.lastname: Saggioro
authors.forename: Luciano
authors.initials: L
authors.lastname: Neder
authors.forename: Carlos Alberto
authors.initials: CA
authors.lastname: Scrideli
authors.forename: Luiz Gonzaga
authors.initials: LG
authors.lastname: Tone
mesh_terms: D001932:Brain Neoplasms / Q000235:genetics* / Q000473:pathology*; D002891:Chromosomes, Human, Pair 21 / Q000235:genetics; D020732:Cytogenetic Analysis; D004314:Down Syndrome / Q000235:genetics* / Q000473:pathology*; D006801:Humans; D007223:Infant; D015192:Infratentorial Neoplasms / Q000235:genetics* / Q000473:pathology*; D008297:Male; D013724:Teratoma / Q000235:genetics* / Q000473:pathology*