Innovative Model for Myelodysplastic Syndromes Reveals Key Genetic Changes Better Characterizing the Disease

New research has developed an advanced experimental model for studying myelodysplastic syndromes (MDS), a group of blood disorders mainly affecting older adults with a low survival rate of about 30% over five years. These syndromes involve impaired maturation of blood cells in the bone marrow, leading to symptoms such as fatigue and increased infection risk. If untreated, MDS can progress to acute myeloid leukemia, a more aggressive cancer.

The study, published in Molecular Cytogenetics by a team led by Dr. Francesc Solé and spearheaded by first author Júlia Mestre, utilized cutting-edge genomic techniques to thoroughly characterize the MDS-L cell line, derived from a 52-year-old patient. Their detailed analysis identified 9 chromosomal alterations and 39 new genetic variants, providing valuable insight into the complex genetic landscape of MDS. This enhanced understanding allows researchers to better interpret disease mechanisms and identify potential therapeutic targets.

A key component of their approach was employing Optical Genome Mapping (OGM), which enabled highly accurate detection of both small and large-scale chromosomal abnormalities. These findings reinforce OGM's utility in diagnosing and researching MDS. The comprehensive genetic profile affirms that the MDS-L cell line faithfully mimics the disease’s pathological features, making it a valuable in vitro model for testing new drugs and therapies. This progress paves the way to accelerate the development of novel treatments for MDS, ultimately aiming to improve patient outcomes.

For more detailed information, see the full study by Mestre et al. in Molecular Cytogenetics (2025).

Source: https://medicalxpress.com/news/2025-06-experimental-myelodysplastic-syndromes-uncovers-genetic.html