A genetic mistake lies behind many cases of a rare childhood leukaemia, researchers have revealed.
The "fusion gene" may be responsible for 30% of cases of acute megakaryoblastic leukaemia, researchers say.
The gene creates a hybrid protein formed from the front end of a blood protein and the back of a kidney protein, according to a report in Cancer Cell.
Scientists found that patients afflicted by the fusion protein were at especially high risk of failing to respond to treatment.
The conclusions came from an analysis of some 40 patients from centres around the world. This showed that just 28% of those with the fusion gene – CBFA2T3-GLIS2 -were long-term survivors compared with 42% of others.
Researcher Dr Richard Wilson, of the Washington University School of Medicine, St Louis, USA, said: "We identified this unusual gene fusion by comparing the genome of children’s healthy cells with the genome of their cancer cells.
"With this discovery, we now can search for more effective treatment options that target this precise defect."
Researcher Dr James Downing, of the St Jude Children’s Research Hospital, Memphis, Tennessee, USA, added: "The discovery of the CBFA2T3-GLIS2 fusion gene in a subset of patients with AMKL paves the way for improved diagnostic testing, better risk stratification to help guide treatment and more effective therapeutic interventions for this aggressive childhood cancer."
An inv(16)(p13.3q24.3)-encoded CBFA2T3-GLIS2 fusion protein defines an aggressive subtype of pediatric acute megakaryoblastic leukemia. Cancer Cell November 13 2012
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