According to a new study led by researchers at The Institute of Cancer Research, London, and published in the journal Nature Genetics on Monday 10 November 2015, Genetic Mutations in the REST gene have been shown to cause Wilms’ tumour, a rare kidney cancer that occurs in children.
A Wilms’ tumor is a rare kidney cancer that primarily affects children. Also known as nephroblastoma, Wilms’ tumour is the most common cancer of the kidneys in children. Wilms’ tumour most often affects children ages 3 to 4 and becomes much less common after age 5.
Wilms’ tumour most often occurs in just one kidney, though it can sometimes be found in both kidneys at the same time. Improvements in the diagnosis and treatment of Wilms’ tumour have improved the prognosis for children with this disease.
Wilms Tumour affects about 1 in 10,000 children, but is curable approximately 90% of the time.
The study found mutations in the REST gene in 16 children with Wilms tumour; in 9 cases the children were the only ones in their families to develop cancer, and in 4 cases more than one child in the family developed the cancer.
The clustering of cases of this rare cancer led researchers to think that the cause was most probably hereditary genetic one, and they estimate that REST mutations are responsible for around 10% of familial Wilms tumour.
The study is part of the Factors Associated with Childhood Tumours (FACT) study, which is uncovering genetic causes of childhood cancers and has participants from more than 5,000 families.
REST has been studied a lot due to its critical role in embryo development, but this is the first time that a previously unrecognised role of REST has been brought to the field of human genetics.
The study found that mutations found in children with Wilms tumour appear to compromise the normal functioning of REST in regulating the development of the embryo.
Study Leader Professor Nazneen Rahman, Head of Genetics and Epidemiology at The Institute of Cancer Research, London, and Head of Cancer Genetics at The Royal Marsden NHS Foundation Trust said:
“We hope our findings will stimulate research into why and how these REST mutations, which all cluster in a particular part of the gene, cause cancer. Our findings are also of immediate value to families, who now have an explanation for why their child got cancer. Moreover, we can now do a simple blood test to see which children in the family are at risk of cancer and may benefit from cancer screening, and which have not inherited the mutation and so are not at increased risk of cancer. This kind of information is really valuable for the families of children with cancer.”
Source: Medical News Today