A complex karyotype including a t(2;11) in a paediatric ependymoma: case report and review of the literature

Abstract

Ependymomas are glial tumours representing approximately 5-10% of all intracranial tumours and are the third most common primary brain tumour in childhood. Only a few karyotypic studies on paediatric ependymomas have been published and no specific chromosomal aberration has been specifically related to this type of cancer. We performed cytogenetic analysis of an ependymoma in an 11-year-old boy. Our patient showed a complex karyotype, characterized by a near-tetraploidy and a sole structural unbalanced aberration: der(2)t(2;11)(q11.2;q13.1), which has not been described before. We here discuss such cytogenetic findings, comparing our data with those reported in the literature.

Molecular genetics of ependymoma

“…Location-specific genomic anomalies observed in intracranial versus spinal ependymomas roughly correspond to those seen in children versus adults, as most pediatric ependymomas occur intracranially whereas adult cases predominantly occur within the spinal cord[4]. Aside from genomic gains and losses, cytogenetic studies have also identified translocations within the ependymoma genome, often involving chromosomes 1, 11, and 22[49]–[52]. Adult ependymomas have been observed to display more frequent and broader chromosomal aberrations than pediatric tumors.…”

Ependymoma

“…Aside from these genomic gains and losses, cytogenetic studies have also identified translocations within the ependymoma genome, often involving chromosomes 1, 11, and 22 (de Bont et al, 2008;Karakoula et al, 2008;Mack and Taylor, 2009;Aschero et al, 2010). Based on the number of chromosomal anomalies, pediatric ependymomas can be subdivided into three subgroups (Dyer et al, 2002).…”