Sunday 5 October 2008
Scientists have discovered that defects in certain genes that control growth cause a significant proportion of Wilms Tumour; the most common childhood kidney cancer, according to a study published in the journal Nature Genetics today.
The study, undertaken by researchers at The Institute of Cancer Research and partly funded by Cancer Research UK with a grant from Sir Michael and Lady Kadoorie, demonstrates for the first time that defects in growth genes can cause Wilms Tumour in otherwise healthy children.
Lead investigator Professor Nazneen Rahman, Professor of Human Genetics at The Institute of Cancer Research, is also presenting her findings at the National Cancer Research Institute (NCRI) Cancer Conference tomorrow (Monday 6 October) in Birmingham.
”This discovery represented a significant step forward in understanding the causes of Wilms Tumour,” she said.
“Children with the growth gene abnormalities face about a 20 per cent risk of developing Wilms Tumour and it is also more likely for these children to develop cancer in both kidneys,” she said.
Results show that the growth gene defects are responsible for about five percent of Wilms Tumours. About half of these children are otherwise healthy and half have other conditions, such as excess growth of the tongue or one limb. In the more advanced forms of the disease, where the cancer affects both kidneys, the growth gene defects were present in 12 per cent of cases.
Researchers have also helped to develop a molecular test for the abnormalities which has been taken up by NHS diagnostic laboratories. This means children with Wilms tumour will immediately have the opportunity to benefit from this research as the testing can provide a cause for their tumour and will ensure that they are closely monitored for cancer in their other kidney.
“Wilms Tumour is very treatable and most children can be cured. However, if both kidneys are affected the cure rate is lower and it is more difficult to preserve kidney function. In cases such as these, it will be very helpful for doctors to know if a child has the growth gene defect when they are being treated, as it will ensure the other kidney is monitored very carefully and, if necessary, surgery can be restricted so that the child retains enough functioning kidney,” Professor Rahman said.
In some rare cases, the growth gene abnormality can be inherited. In these families, testing siblings of the child with Wilms tumour can identify those who are carriers of the abnormality who can be offered screening to detect a Wilms tumour early.
Growth genes are often clustered in the human genome and are under complex regulation to ensure that growth in children occurs in a controlled fashion. There is a cluster of growth genes on chromosome 11 and it was known that in rare genetic conditions, such as Beckwith-Wiedemann syndrome, that defects in these genes cause children to be too big and sometimes to have cancer. It was not previously known that these defects can also cause cancer in children without the syndrome.
The study involved 437 children with Wilms tumour from ten British childhood cancer centres and 29 families with more than one child with this form of cancer from around the world.
Dr Lesley Walker, director of cancer information at Cancer Research UK, said: “The causes of many types of childhood cancer are still unknown, so this discovery of some of the genetic changes leading to the development of Wilms tumour, is very important. Although most children with Wilms tumour are successfully treated, these results could help doctors to optimise the care they are given. In addition, tests for the genetic faults could allow early detection of recurrence of the tumour and of other cases of Wilms in the patient’s family.”
Professor Rahman and co-author Dr Scott will be presenting findings from this research at the National Cancer Research Institute (NCRI) conference tomorrow (6 October 2008). Professor Rahman will be available for interview today, Sunday 5 October.
For more information about the NCRI conference please go to http://www.ncri.org.uk/ncriconference/
Ends
Notes for editors:
1. The publication will be available on the Nature Genetics website: http://www.nature.com/ng/
2. All media queries should go to: Cathy Beveridge, 020 7153 5359 /07776181945 or on [email protected]
3. The investigation was carried out using a methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) led strategy which allowed robust, high-throughput interrogation of the 11p15 growth regulatory region for the range of known epigenetic defects and imprinting centre mutations.
4. Recruitment for the study occurred through the Investigation of Familial Wilms Tumour Genes and the Factors Associated with Childhood Tumours (FACT) study. These are both Childhood Cancer and Leukaemia Group (CCLG) approved studies
About Wilms Tumour
Around 70 children are diagnosed with Wilms tumour in the UK each year, the most common childhood renal cancer, affecting approximately one in every 10,000 children. Wilms Tumour is very treatable and most children can be cured. However, if both kidneys are affected the cure rate is lower and it is more difficult to preserve kidney function.
About The Institute of Cancer Research and The Royal Marsden Hospital
The Institute of Cancer Research is Europe’s leading cancer research centre with expert scientists working on cutting edge research. It was founded in 1909 to carry out research into the causes of cancer and to develop new strategies for its prevention, diagnosis, treatment and care. For more information visit ww.icr.ac.uk
The Institute is a charity that relies on voluntary income. The Institute is one of the world’s most cost-effective major cancer research organisations with over 950p in every £ of total income directly supporting research.
The Royal Marsden Hospital was the first hospital in the world dedicated to cancer treatment and research into the causes of cancer. A world leader in research, drug trialling and diagnostics, The Royal Marsden provides inpatient, day care and outpatient services for all areas of cancer treatment.
Today the hospital with its academic partner, The Institute of Cancer Research, forms the largest comprehensive cancer centre in Europe with more than 40,000 patients from the UK and abroad seen each year.
About Cancer Research UK
- Together with its partners and supporters, Cancer Research UK's vision is to beat cancer.
- Cancer Research UK carries out world-class research to improve understanding of the disease and find out how to prevent, diagnose and treat different kinds of cancer.
- Cancer Research UK ensures that its findings are used to improve the lives of all cancer patients.
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About the NCRI Cancer Conference
The National Cancer Research Institute (NCRI) Cancer Conference is the UK’s premier forum for disseminating advances across all aspects of cancer research.
About the NCRI
The National Cancer Research Institute (NCRI) was established in April 2001. It is a UK-wide partnership between the government, charity and industry which promotes co-operation in cancer research among the 21 member organisations for the benefit of patients, the public and the scientific community. www.ncri.org.uk
NCRI members are: the Association of the British Pharmaceutical Industry (ABPI); Association for International Cancer Research; Biotechnology and Biological Sciences Research Council; Breakthrough Breast Cancer; Breast Cancer Campaign; Cancer Research UK; CHILDREN with LEUKAEMIA, Department of Health; Economic and Social Research Council; Leukaemia Research; Ludwig Institute for Cancer Research; Macmillan Cancer Support; Marie Curie Cancer Care; Medical Research Council; Northern Ireland Health and Social Care (Research & Development Office); Roy Castle Lung Cancer Foundation; Scottish Government Health Directorates (Chief Scientist Office); Tenovus; Welsh Assembly Government (Wales Office of Research and Development for Health & Social Care); The Wellcome Trust; and Yorkshire Cancer Research.