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Genetic abnormality offers diagnostic hope for children's cancer
Date:3/28/2012

in tumours"

"We are now hoping that these findings are reproduced in other studies currently underway in other countries, including the USA" added Professor Grundy, "If their results match ours, then the presence of 1q25 copy gain in childhood ependymoma could be introduced into future international treatment planning as a new marker of poor outcome which will in turn define treatment. We would intend that this should be something each patient's tumour is tested for at the time of diagnosis."

Ependymomas are brain tumours that can occur at any age but are more common in children. Despite improvements in therapy over recent years, the prognosis for children with this cancer remains poor 40 per cent of affected children still die.

One of the reasons that survival for childhood ependymomas has not improved is that, until now, doctors have not been able to accurately predict which tumours will behave more or less aggressively than others. Factors that have helped the ability to predict outcomes in other cancers, such as patient sex, age, how much of the tumour is removed and how aggressive the tumour appears under the microscope, have not been found to be consistently reliable in previous studies.

In normal humans, the cells which make up our body tissue contain chromosomes made up of DNA and proteins the building blocks of life. Normally, our cells have two copies of 23 chromosomes (numbered 1 to 22) plus two sex chromosomes, making a total of 46 chromosomes. Each chromosome has two arms a short arm called the p arm and a long arm called the q arm.

In tumour cells the number of chromosomes can vary significantly from the normal cell numbers and in ependymoma a frequent finding from biological studies is increased copies of chromosome number 1, specifically increased numbers of the long arm of chromosome 1. This abnormality is termed 1q copy number gain.

For the Nottingham-led study, the scientists assessed the r
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Contact: Emma Thorne
emma.thorne@nottingham.ac.uk
44-011-595-15793
University of Nottingham
Source:Eurekalert

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