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New Lab Model to Help Find Treatments for Aggressive Blood Cancer

By LabMedica International staff writers
Posted on 07 Jul 2025

Myelodysplastic syndrome (MDS) is a type of blood cancer that often progresses into Acute Myeloid Leukemia (AML), a highly aggressive form of cancer that is difficult to diagnose and treat. As MDS evolves into AML, the mutations driving the disease are often hard to pinpoint, making it challenging to develop effective treatments. The progression from MDS to AML can be accompanied by an array of genetic changes, including mutations in the CEBPA gene, which plays a significant role in this transition. This progression often involves the reduction of healthy cells, the blockage of white blood cell formation, and the growth of aberrant cells that divide rapidly, even in response to chemotherapy. The difficulty in diagnosing and understanding these mutations in real-time has hindered the development of effective treatments. Now, researchers have developed a new lab model that could accelerate the process of drug screening and diagnosis by providing a more accurate and quicker way to study these mutations.

The solution was developed by a team of researchers at the University of Birmingham (Birmingham, UK) who created a new cell culture model based on induced pluripotent stem cells (iPSCs) derived from a patient with MDS. These iPSCs, which can give rise to any cell type in the body, were used to study how MDS progresses and to investigate the role of the CEBPA mutation. The team used blood cells from the patient and reprogrammed them into iPSCs, allowing them to create both white and red blood cells in the lab. By modifying the patient’s genome to include the mutation in the CEBPA gene, the researchers were able to replicate the disease’s progression, making the cells behave similarly to the patient’s real cells. This model presents an exciting opportunity to study the disease at a cellular level and recreate the mutations responsible for the transition from MDS to AML.


Image: Cellular work has found mutation in gene that leads to disease progression in myelodysplastic syndromes (Photo courtesy of University of Birmingham)
Image: Cellular work has found mutation in gene that leads to disease progression in myelodysplastic syndromes (Photo courtesy of University of Birmingham)

The model was validated through rigorous testing and comparison with the patient’s actual cells. The researchers showed that the lab-grown cells behaved just like the patient's real cells, confirming that the CEBPA mutation plays a crucial role in the disease's progression. The findings were published in Nature Communications, highlighting the potential of this new model in understanding blood cancers. The research demonstrated that the mutation of the CEBPA gene leads to significant changes in gene activity, pushing the cells toward malignancy. This breakthrough could facilitate the development of novel treatments and diagnostics for MDS and AML. Moving forward, the team plans to use this model to conduct more elaborate drug screening experiments to identify potential therapies for this aggressive blood cancer.

“Firstly, we developed a powerful and true to life model for future research using induced pluripotent stem cells (iPSCs) from an actual patient which presents an exciting future for studying blood cancers as we are also able to recreate the mutations that led to the cancer,” said Dr. Paloma Garcia, lead author of the study and researcher at the University of Birmingham. “Secondly, the confirmation that the mutation of the CEBPA gene plays such an important role in disease progression presents a significant step towards new ways to treat and diagnose MDS and avoid more serious conditions. I believe that our new cell culture model could form the basis of elaborate drug screening experiments which could help to find potential treatments for what currently is a highly aggressive blood cancer.”

Related Links:
University of Birmingham


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