Researchers identify KOPM-88 cell line with KMT2A::SEPTIN6 fusion gene

Researchers in Germany say they have identified the world’s first live cell line carrying a rare genetic change linked to an aggressive blood cancer. The team at the Leibniz Institute DSMZ in Braunschweig confirmed the KOPM-88 line is the only known model that carries the KMT2A::SEPTIN6 fusion gene, a mutation found in a small subset of acute myeloid leukemia cases. The discovery was published this week in the journal Cells.

Routine genetic tests for AML usually miss the KMT2A rearrangement because it joins two genes that are far apart on different chromosomes. Until now, scientists lacked a stable, reproducible cell model to study how this fusion drives leukemia and to screen potential drugs. The KOPM-88 line provides that missing tool, giving researchers a consistent supply of living cells that faithfully replicate the genetic defect.

Dr. Stefan Nagel, who leads the DSMZ’s Molecular Genetics group, calls the breakthrough urgent. “This subtype of AML is both rare and aggressive,” he says. “It accounts for less than 1 percent of adult AML cases, but outcomes are poor and current therapies are not targeted.” The cell line will let scientists test new drugs, dissect how the fusion protein disrupts normal blood-cell development, and look for weaknesses they can exploit.

With the model now available to academic and commercial labs worldwide, the next step is large-scale drug screening. Nagel’s team plans to use KOPM-88 to search for compounds that block the abnormal protein made by the fused genes. If successful, the work could pave the way for the first targeted therapy for patients whose leukemia is driven by KMT2A::SEPTIN6.