Trial Information

The Role of Erythropoietin in Myelodysplastic Syndrome

Myelodysplastic syndromes are a heterogeneous group of disorders characterized by clonal
expansion of hematopoietic stem cells and ineffective hematopoiesis. Although all 3 cell
lineages in myeloid hematopoiesis can be involved, the erythroid dysplasia and ineffective
erythropoiesis of MDS are usually the most severe, and often precede the development of
other bone marrow lineage defects.

In normal erythropoiesis, erythroid progenitors differentiate and proliferate in response to
stimulation by erythropoietin (Epo). Epo binds to its receptor, EpoR, constitutively
expressed at the surface of committed erythroid progenitors and induces homodimerization.
This study is designed to evaluate the EpoR cDNA sequence and its level of expression in the
clonal erythroid progenitors of MDS patients (in cells stratified for the same degree of
erythroid maturation) to determine whether mutations in the EpoR may be responsible for an
aberrant Epo signal transduction in MDS. As well as analyze intrinsic erythroid Epo
expression to determine whether it differs between normal controls and patients with MDS and
perform a microarray analysis of genes associated with Epo signal transduction to determine
if MDS patients have abnormal expression of signal transduction proteins.