Leukemia: Researchers at the Leibniz Institute DSMZ identify the world’s first cell line with the KMT2A::SEPTIN6 fusion

Sep 2, 2026, 6:36:06 PM
PhDr. Sven-David Müller , Leibniz-Institut DSMZ-Deutsche Sammlung von Mikroorganismen und Zellkulturen GmbH

Researchers at the Leibniz Institute DSMZ-German Collection of Microorganisms and Cell Cultures have, for the first time, identified a model cell line for a rare form of acute myeloid leukemia (AML). “The KOPM-88 cell line is, to date, the first and only known cell line worldwide to carry the KMT2A::SEPTIN6 fusion gene”, explains Dr Stefan Nagel, head of the Molecular Genetics research group in the Department of Human and Animal Cell Cultures at the DSMZ. “ Thus, cancer research now as an urgently needed model system available to specifically investigate this aggressive subtype of leukemia and develop novel therapeutic approaches,” Dr Nagel continues. Fusion genes as the driving force behind tumors Fusion genes arise when chromosomes in cancer cells undergo abnormal rearrangements, causing parts of different genes to merge. Such genetic alterations are particularly common in leukemias (blood cancer). These specific alterations help medical staff to classify cancers more accurately and, in some cases, can also be targeted directly with treatment. The KMT2A gene plays a particular role in this context: it can fuse with more than 100 different partner genes, which can be divided into five groups. Such KMT2A fusion genes are usually linked with a poor prognosis and have so far proved difficult to treat therapeutically. All the more important, therefore, are appropriate model systems that enable the biological properties of these cancer types to be reproduced and studied in the laboratory. A rare fusion gene from pediatric leukemia The fusion gene KMT2A::SEPTIN6 has been described in tumour cells from children with acute myeloid leukemia. The KOPM-88 cell line was originally established from the peripheral blood of an 11-year-old boy with AML. The research team led by Dr Stefan Nagel has now demonstrated that this exact cell line carries the rare KMT2A::SEPTIN6 fusion gene. Consequently, KOPM-88 is not only the first known cell line with this fusion gene, it is also the only available cell line representative of KMT2A fusion genes group 3. This represents a significant advance for research, as this leukemia subtype can now be systematically studied in vitro for the first time. Unexpected biological behavior opens up new therapeutic ideas The results published in the journal Cells demonstrate that KMT2A::SEPTIN6 functionally differ from other KMT2A fusion genes. Whereas most KMT2A fusions typically activate specific target genes, the DSMZ researchers in Braunschweig observed the opposite in this case: the classic target gene HOXA7 was repressed rather than switched on. At the same time, activation of the BMP signaling pathway, which can promote cell division, was observed. These observations suggest that, in this rare form of AML, different molecular mechanisms are at work than previously assumed. This, in turn, opens new avenues for the development of targeted therapies. Cell line made available to the international research community The findings are being made rapidly available for further research: the Leibniz Institute DSMZ is now distributing the KOPM 88 cell line to scientists worldwide (www.dsmz.de/collection/catalogue/details/culture/ACC-11029). Such bioresource-based models provide an important foundation for gaining a better understanding of disease mechanisms and for preclinical testing of new active substances. Press contact PhDr. Sven-David Müller, Head of Science Communication, Leibniz Institute DSMZ-German Collection of Microorganisms and Cell Cultures GmbH Phone: ++49 (0)531/2616-300, Mail: press@dsmz.de About the Leibniz Institute DSMZ The Leibniz Institute DSMZ-German Collection of Microorganisms and Cell Cultures is the world's most diverse collection of biological resources (bacteria, archaea, protists, yeasts, fungi, bacteriophages, plant viruses, genomic bacterial DNA as well as human and animal cell lines). Microorganisms and cell cultures are collected, investigated and archived at the DSMZ. As an institution of the Leibniz Association, the DSMZ with its extensive scientific services and biological resources has been a global partner for research, science and industry since 1969. The DSMZ was the first registered collection in Europe (Regulation (EU) No. 511/2014) and is certified according to the quality standard ISO 9001:2015. As a patent depository, it offers the only possibility in Germany to deposit biological material in accordance with the requirements of the Budapest Treaty. In addition to scientific services, research is the second pillar of the DSMZ. The institute, located on the Science Campus Braunschweig-Süd, accommodates more than 95,000 bioresources and has around 210 employees. www.dsmz.de The Leibniz Association The Leibniz Association connects 96 independent research institutions that range in focus from natural, engineering and environmental sciences to economics, spatial and social sciences and the humanities. Leibniz Institutes address issues of social, economic and ecological relevance. They conduct basic and applied research, including in the interdisciplinary Leibniz Research Alliances, maintain scientific infrastructure, and provide research-based services. The Leibniz Association identifies focus areas for knowledge transfer, particularly with the Leibniz research museums. 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