Breakthrough Lab Model Links Gene Mutation to Deadly Blood Cancer Progression

Recent research has introduced a cutting-edge laboratory model that could revolutionize the way scientists understand and treat an incurable form of blood cancer. Published in Nature Communications, the study, led by researchers from the University of Birmingham, highlights how a specific gene mutation drives the progression from a less aggressive blood disorder to a more severe leukemia type.

The team focused on myelodysplastic syndrome (MDS), a condition involving abnormal blood cell production which often evolves into acute myeloid leukemia (AML), a highly aggressive blood cancer. By developing a sophisticated cell culture system using induced pluripotent stem cells (iPSCs) derived from actual patient blood cells, researchers were able to mimic the disease's progression in the lab.

This innovative model confirmed that a mutation in the CEBPA gene plays a critical role in worsening the disease. Using these patient-specific cells, they engineered the mutation into early-stage disease cells, observing that this change amplified the disease’s severity by reducing healthy blood cells, disrupting white blood cell formation, and generating rapidly dividing abnormal cells resistant to chemotherapy, mirroring clinical observations.

Professor Constanze Bonifer explained that their in-vitro cells not only mimicked patient cells but also revealed that the CEBPA mutation drastically alters DNA organization in blood cells, leading to malignant transformation. Dr. Paloma Garcia emphasized that this approach provides a powerful new tool for understanding how blood cancers develop and accelerates the discovery of potential treatments.

This groundbreaking work paves the way for developing targeted therapies that could intercept disease progression at an early stage, offering hope for more effective management of aggressive blood cancers in the future.

Source: https://medicalxpress.com/news/2025-07-incurable-blood-cancer-gene-mutation.html