The likelihood of developing an aggressive form of blood cancer, known as acute myeloid leukemia (AML), is significantly increased for people with trisomy 21. A research team, including scientists from the LOEWE Center "Frankfurt Cancer Institute" (FCI), has now found the cause of this. The so-called RUNX1 gene is disrupted by the additional 21st chromosome, which can ultimately lead to the development of AML. The results were published in the journal blood.
The research group led by Professor Jan-Henning Klusmann, Director of the Department of Pediatrics and Adolescent Medicine at the University Hospital Frankfurt am Main and a scientist at LOEWE-FCI, used gene scissors (CRISPR-Cas9) to examine all 218 genes located on chromosome 21 for their cancer-promoting effect. The scientists discovered the gene RUNX1, which is responsible for regulating many processes, including blood formation. If the regulator is disturbed, AML can develop. The researchers were also able to demonstrate that only certain variants of the gene promote the development of leukemia. "Other variants of RUNX1 were even able to prevent the cells from degenerating. This explains why RUNX1 has so far not attracted attention in several decades of intensive cancer research," Klusmann said.
"The study underscores the importance of studying all gene variants in cancer development. The formation of these variants is often altered by specific mutations in cancer cells," the pediatric oncologist said. The findings have laid a foundation for the development of more refined treatment approaches and therapies that could correct this misalignment, Klusmann explains.