A whole-genome scan to identify large-scale chromosomal damage can help doctors choose the best treatment option for children with neuroblastoma, one of the most common types of childhood cancer, finds an international collaboration jointly led by The Institute of Cancer Research, London.
The researchers called for all children diagnosed with neuroblastoma worldwide to have a whole-genome scan as a standard part of their treatment.
Neuroblastoma, a cancer of the developing nervous system, is sometimes very treatable but other forms are highly aggressive, making the disease overall one of the leading causes of death from childhood cancer. As intense treatments can carry life-long side-effects, identifying the form is crucial in giving an accurate prognosis and deciding the most appropriate care.
Scientists examined the medical records of 8,800 neuroblastoma patients from around the world and found that several large-scale genetic faults were strongly linked to survival rates, and that a whole-genome scan would therefore be more effective at predicting prognosis than tests for individual genetic factors. The study is published in the British Journal of Cancer today.
Senior author Professor Andy Pearson, Cancer Research UK professor of paediatric oncology at The Institute of Cancer Research and a paediatric consultant at The Royal Marsden NHS Foundation Trust, said: "Our study has found that every single patient diagnosed with neuroblastoma should have a whole genome assessment. The technology required to carry out these scans has become much more widely available and cheaper over recent years, and we believe most diagnostic labs in developed countries worldwide should have this capacity. These gene tests would help doctors provide a more accurate prognosis and decide the best treatment for their patients, which could potentially save more lives and spare other children the risk of serious side-effects."
The study builds on earlier work by the same international team, called the International Neuroblastoma Risk Group, who proposed classifying tumours based on 13 characteristics including the status of three genetic alterations (ploidy, MYCN and the segmental gene alteration 11q). Since the system was introduced four years ago, scientists' understanding of the genetic causes of aggressive neuroblastoma has improved and evidence has emerged of a number of other mutations that may be relevant to the disease.
The new study links two further segmental gene alterations - mutations that involve the duplication or deletion of large sections of DNA - to patient survival, specifically 1p status and 17q status. It further concluded that scanning the whole genome provided the most prognostic information, as it took all these factors into account along with less frequent but important genetic changes that also had an impact on survival. The team is now planning to update the official classification system to incorporate the new information, which should improve the personalised approach to therapy for neuroblastoma.
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Notes to editors:
The study used data from the International Neuroblastoma Risk Group database, which at the time included 8,800 children diagnosed with neuroblastoma worldwide. The database now includes more than 16,000 patients, which should enable the classification system to be further refined in future.
In the UK, Professor Pearson established the National Reference Centre for Neuroblastoma Biology, Newcastle Upon Tyne, which has been carrying out part-genome scans for around seven years. The centre, now led by Dr Nick Bown, is set up to run whole-genome scans for patients across the UK.
The Institute of Cancer Research, London, is one of the world's most influential cancer research institutes.
Scientists and clinicians at The Institute of Cancer Research (ICR) are working every day to make a real impact on cancer patients' lives. Through its unique partnership with The Royal Marsden Hospital and 'bench-to-bedside' approach, the ICR is able to create and deliver results in a way that other institutions cannot. Together the two organisations are rated in the top four cancer centres globally.
The ICR has an outstanding record of achievement dating back more than 100 years. It provided the first convincing evidence that DNA damage is the basic cause of cancer, laying the foundation for the now universally accepted idea that cancer is a genetic disease. Today it leads the world at isolating cancer-related genes and discovering new targeted drugs for personalised cancer treatment. The Cancer Therapeutics Unit and Drug Development Unit at the ICR and The Royal Marsden were recently honoured with the 2012 American Association for Cancer Research Team Science Award for the "tremendous impact" of their preclinical and clinical studies.
As a college of the University of London, the ICR provides postgraduate higher education of international distinction. It has charitable status and relies on support from partner organisations, charities and the general public.
The ICR's mission is to make the discoveries that defeat cancer. For more information visit www.icr.ac.uk
The Royal Marsden NHS Foundation Trust
The Royal Marsden opened its doors in 1851 as the world's first hospital dedicated to cancer diagnosis, treatment, research and education.
Today, together with its academic partner, The Institute of Cancer Research (ICR), it is the largest and most comprehensive cancer centre in Europe treating over 44,000 patients every year. It is a centre of excellence with an international reputation for groundbreaking research and pioneering the very latest in cancer treatments and technologies. The Royal Marsden also provides community services in the London boroughs of Sutton and Merton and in June 2010, along with the ICR, the Trust launched a new academic partnership with Mount Vernon Cancer Centre in Middlesex.
Since 2004, the hospital's charity, The Royal Marsden Cancer Charity, has helped raise over £50 million to build theatres, diagnostic centres, and drug development units.
Prince William became President of The Royal Marsden in 2007, following a long royal connection with the hospital. For more information, visit www.royalmarsden.nhs.uk