Functional Role of RUNX1 Mutations in the Etiology of Acute Myeloid Leukemia (AML)
Acute Myeloid Leukemia
Conditions: official terms
Leukemia, Myeloid - Leukemia, Myeloid, Acute
Study Type
Study Phase
Study Design
Time Perspective: Prospective
Overall Status
Not yet recruiting
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
Detailed Description
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.
Criteria for eligibility
Healthy Volunteers: Accepts Healthy Volunteers
Maximum Age: 45 Years
Minimum Age: 18 Years
Gender: Female
Criteria: Inclusion Criteria:

- Consenting women who have had full-term birth

Exclusion Criteria:

- Systemic disease
Hillel Yaffe Medical Center
Hadera, Israel
Status: Not yet recruiting
Contact: Ofer Fainaru, MD, PhD -
Start Date
April 2011
Completion Date
April 2013
Hillel Yaffe Medical Center
Hillel Yaffe Medical Center
Record processing date processed this data on July 28, 2015 page