Myelodysplastic Syndromes (MDS) result from malignant transformation of a HSC, which has growth advantage over normal HSCs resulting in an abnormal clone of cells. Chromosomal abnormalities are detected in approximately 30% to 70% of MDS patients and believed to have a strong correlation with the disease origin and progression. Bone marrow (BM) microenvironment which is the nurturing niche of HSCs is also known to be altered in MDS. Research has found that mesenchymal stem cells (MSCs), which give rise to most of the stromal components of the marrow is altered in MDS .
The genetic abnormalities present in MDS are thought to initiate at the level of stem cells in the hematopoietic and mesenchymal compartments. These genetic abnormalities occur due to previous exposure to mutagens like benzene, alkylating agents, gasoline, topoisomerase II inhibitors, radiation etc.