People with a third copy of chromosome 21, known as trisomy 21, are at high risk of developing Acute Myeloid Leukemia (AML), an aggressive form of blood cancer. Scientists led by the Department of Pediatrics at University Hospital Frankfurt have now identified the cause: although the additional chromosome 21 leads to increased gene dosage of many genes, it is above all the perturbation of the RUNX1 gene – a gene that regulates many other genes – that seems to be responsible for AML pathogenesis. Targeting the perturbed regulator could pave the way for new therapies.
Leukemia (blood cancer) is a group of malignant and aggressive diseases of the blood-forming cells in the bone marrow. Very intensive chemotherapy and in some cases a bone marrow transplant are the only cure. Like all cancers, leukemia is caused by changes in the DNA, the heredity material present in human cells in the form of 46 chromosomes. In many forms of leukemia, large parts of these chromosomes are altered. People with Down syndrome, who have three copies of chromosome 21 (trisomy 21), are highly vulnerable: the risk of developing aggressive Acute Myeloid Leukemia (AML) in the first four years of their life is more than 100 times greater for children with Down syndrome. Down syndrome is the most common congenital genetic disorder, affecting about one in 700 newborn babies.