A pioneering genetic study held in the North East is saving lives and shaping the way a type of childhood leukaemia is treated.
The study by Newcastle University scientists is giving youngsters with a rare form of the disease a 75% less chance of their leukaemia recurring.
The research has worked by identifying a genetic error known as iAMP21 in patients with a special test which “lights up” the abnormality, before putting those patients on an intensive treatment regimen.
A decade ago, the same scientists, funded by the charity Leukaemia and Lymphoma Research, discovered the chromosomal abnormality iAMP21 and the fact that it gave patients a higher risk of relapse.
They found more than 80% of patients with iAMP21 relapsed, compared with fewer than for 25% for children overall.
Since 2003, bone marrow samples from every child diagnosed with acute lymphoblastic leukaemia have been screened for iAMP21 with a genetic test which binds glowing tags to DNA and “lights up” the abnormal sequences.
The genetic error is found when parts of chromosome 21 – one of 23 pairs of chromosomes – are copied and shuffled around, resulting in extra copies of some genes.
The team, led by the university’s Professor Christine Harrison and Professor Anthony Moorman from the Leukaemia Research Cytogenetics Group, tracked the patients’ progress with samples from clinical trials between 1997 and 2002.
Children with iAMP21 were immediately recommended for intensive treatment and results have shown a dramatic reduction in relapses - and with those surviving for five years or more it increased to nearly a 90% reduction in relapse.
Prof Moorman, who specialises in genetic epidemiology at Newcastle University, said: “Although using the presence of genetic abnormalities to guide treatment is not new within childhood leukaemia, such a clear demonstration of its beneficial impact on survival is extremely rare.
“In time we may be able to design drugs to actually target the iAMP21 abnormality, sparing these children from toxic treatment.”
Professor Chris Bunce, research director at Leukaemia & Lymphoma Research, said: “By establishing how different genetic abnormalities found in leukaemia cells dictate how well the child will respond to treatment, we can identify high-risk patients early on.
“These results demonstrate the huge potential of personalised medicine.”