Study uncovers important genetic predispositions for acute myeloid leukemia

The National Center for Tumor Diseases Dresden (NCT/UCC) is an institution that is jointly operated by the German Cancer Research Center (DKFZ) as well as the University Hospital Carl Gustav Carus Dresden, Carl Gustav Carus Faculty of Medicine at TU Dresden and the Helmholtz-Zentrum Dresden-Rossendorf (HZDR).

Acute myeloid leukemia (AML) is the most prevalent form of rapidly progressive blood cancer in adults. If left untreated, it can be fatal in a very short period of time. The causes of AML aren’t well understood in the majority of cases. A large-scale international study led by researchers from Newcastle University, the Icahn School of Medicine at Mount Sinai (ISMMS, New York), the University Hospital Carl Gustav Carus Dresden and the National Center for Tumor Diseases Dresden (NCT/UCC) have revealed for the first time that common inherited genetic factors increase the likelihood of developing AML.

This type of association was previously only recognized for genetic alterations that were rare in AML patients and their families. “The results provide a vital basis for understanding the nature of the disease and the biological mechanisms behind it. This could lead to novel methods of treating and preventing the disease in the near future,” says Professor James M. Allan from Newcastle University. “These results are the outcome of a team effort that was made possible because of years of collaboration that has been successful between researchers and medical professionals from ten different nations.”

Researchers examined the sites in the human genome-wide association study which contained the most genetic material. They focused on the areas of approximately three billion nucleotides within the normal human DNA sequence. They looked at more than 7,000,000 of these single nucleotide mutagenesis (SNPs) and discovered an increase in frequency of a change in KMT5B in patients suffering from AML than in the 10,500 healthy individuals. Researchers also discovered a genetic change in the HLA-DQB1 gene located on chromosome 6, which was substantially more frequent in patients with normal karyotype AML, the most common type of this disease.

We know that one of the risk genes plays an essential part in maintaining an immune system that is healthy. Consequently, our results show that a strong immune system helps us avoid developing AML, while an ineffective immune system increases the chance of developing AML.”

Professor Friedrich Stolzel, University Hospital Dresden

Professor Kenan Onel, of the Icahn school of medicine at Mount Sinai, stated that “the evident link between genetic factors and occurrences of AML suggests inherited genetic variants are a major cause of disease.” “The relevant genetic traits are inherited and can be passed on within families.”

Future research will investigate the biological mechanisms involved in the triggers and how they influence the development of leukemia. This information could result in new strategies for treating and preventing leukemia in the coming years.

Journal reference:

Lin, W.Y., and. (2021) Genome-wide association study identifies susceptibility genes for acute myeloid leukemia. Nature Communications.

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Gemma Wilson

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