Intracranial teratoma in children: The role of chromosome 21 trisomy. Issue 2 (8th November 2013)

• Record Type: Journal Article
• Authors: Ferraz, Sabrine Teixeira; Valera, Elvis Terci; Brassesco, María Sol; de, Ricardo Santos; dos, Antonio Carlos; Saggioro, Fabiano Pinto; Neder, Luciano; Scrideli, Carlos Alberto; Tone, Luiz Gonzaga
• Is Part Of: Neuropathology. Volume 34:Issue 2(2014)
• Page Start: 197
• Page End: 200
• Publication Date: 2013-11-08
• Subjects: Nervous system -- Diseases -- Periodicals; Nervous system -- Pathophysiology -- Periodicals; 616.8047
• DOI: 10.1111/neup.12077
• Languages: English
• ISSNs: 0919-6544

Abstract

<abstract abstract-type="main"> <title> <x xml:space="preserve">Abstract</x> </title> <p>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.</p> </abstract>