Pathophysiology

Ependymomas are traditionally thought to arise from oncogenetic events

that transform normal ependymal cells into tumor phenotypes. Significant
progress has been made toward delineating mutations that segregate with
various tumor phenotypes. Some evidence now suggests that radial glia
may be the cells of origin. [13, 14]
In 1988, Dal Chin and colleagues described cytogenetic studies on a
supratentorial ependymoma from a 3-year-old girl that showed a
t(10;11;15)(p12.2;q13.1;p12) and loss of one X chromosome. [15] This
relatively simple karyotypic change was not observed in the analysis of 4
ependymomas published 1 year later. In 1 of the 4 ependymomas studied,
translocations involving chromosomes 9, 17, and 22 were observed
together with loss of the normal chromosome 17. A second ependymoma
had many chromosomal alterations that included a translocation between
chromosomes 1 and 2 and rearrangements involving chromosome 17.
Consistent genetic alterations were not detected in the remaining 2 cases.