Acute Myeloid Leukemia Clinical Trial
The purpose of this study is to elucidate the role of RUNX1 in Acute Myeloid Leukemia (AML), in particular, the transcriptional regulation of genes by mutated forms of this protein. This research will study the effect of mutations found in AML patients
The RUNX1 gene, located at chromosomal band 21q22, is a transcription factor, crucial for
hematopoiesis and the generation of hematopoietic stem cells in the embryo. RUNX1 is the
most frequent target for chromosomal translocation in leukemia. In addition, point mutations
in the RUNX1 gene have been found to constitute an important mode of genetic alteration in
development of leukemia. Recent publications stressing the clinical need for implementing
RUNX1 point mutations as both a diagnostic and unfavorable prognostic marker of AML, have
aroused particular interest in the functional role of RUNX1 in this disease.
In order to pinpoint specific RUNX1 target genes involved in pre-leukemic transformation or
exacerbation of existing leukemia, the investigators plan to compare expression profiles
from human hematopoietic progenitors overexpressing a mutated form of RUNX1with controls
(RUNX1 wild-type and knocked-down). In this study the investigators intend to collect blood,
after receiving informed consent, from umbilical cords of neonates born vaginally, in order
to isolate CD34+ hematopoietic progenitors. Human umbilical cord blood contains relatively
high numbers of CD34+ cells, which may be frozen directly after collection and used as a
source of progenitor cells for further culture or direct analysis.
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