Analysis of ependymomas using comparative genomic hybridisation
2001
Background and objectives Ependymomas are the third most common CNS
tumours in childhood, and account for 9–12% of CNS neoplasms in all age groups.
However, the prognosis for cases not completely excised is poor and the underlying
biology of their development and progression is poorly understood. The few studies
published to date have suggested that specific chromosomal abnormalities may be
associated with the development of a significant proportion of these tumours. We set
out to screen a large series of intracranial and spinal ependymomas for genetic imbalances,
and to correlate these with histology and clinical behaviour. Methods Comparative genomic hybridisation (CGH) was used to detect chromosome
imbalances on 86 ependymomas from 77 patients, of which 22 were children
under 16, treated at one of three UK centres (Newcastle, Nottingham, Southampton).
Cases were first analysed without reference to histology or clinical features, and were
then divided up according to anatomical location, histology and age at presentation. Results Chromosomal imbalances were detected in tumours from 63/77 patients
(82%). The majority involved entire chromosomes or chromosome arms, many
showing patterns of gains suggestive of intermediate ploidy. Of previously reported
abnormalities in ependymoma, the most frequent findings were gain of 1 q, seen in 13
cases (17%), and loss of 22 in 20 (26%). Whereas 1 q gain was seen mainly in posterior
fossa tumours and was restricted to those with classic and anaplastic histology,
loss of 22 was rarely observed in tumours from this location and their histology was
predominantly classic or myxopapillary. In contrast to previous studies, loss of 6q was
found in only 6 cases (8%) and in only one child. Out of 7 tumours biopsied at presentation
and relapse, 4 revealed imbalances and 3 of these demonstrated progression of
abnormalities at relapse. Conclusions Chromosomal imbalance is common in ependymoma and patterns of
abnormality are emerging that are associated with histology or location. Further
studies are needed to establish the prognostic significance of these abnormalities.
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