Gene expression analysis of bone marrow mesenchymal stromal cells from myelodysplastic syndrome (MDS) patients and normal controls

Myelodysplastic syndrome (MDS) is a group of heterogeneous clonal stem cell disorders. We hypothesize that gene expression changes in the bone marrow (BM) microenvironment might play a fundamental role in the development and progression of MDS. The goal of the present study is to investigate the differences in gene expression profiles of BM mesenchymal stromal cells (MSCs) between MDS patients and normal individuals, as well as between MDS subtypes. To this end, we applied global gene expression profiling on BM MSCs from adult de novo MDS patients and from controls. The results suggest that gene expression of the MDS BM microenvironment is difference from control BM. In particular, interferon signaling pathway was shown to be up-regulated in MDS BM. The results also showed altered expression according to disease progression. The present study provides evidence supporting MDS as an immune disease and suggests that BM MSCs are a possible therapeutic target in MDS. The present study include seven adults referred for staging of lymphoma with no evidence of BM involvement as controls, and seven adults diagnosed as de novo MDS cases. The MDS patients consist of three RCMD, three RAEB-1, and one RAEB-2 (abbreviation, RCMD: refractory cytopenia with multilineage dysplasia; RAEB: refractory anemia with excess blasts). Total RNA was isolated from BM MSCs for gene expression analysis that compares the three groups - control (n=7), RCMD (n=3), and RAEB (n=4) - in a pairwise manner.