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ctt-journal > Akimova et al. (Abstract)

Akimova et al. (Abstract)

Cellular Therapy and Transplantation (CTT), Vol. 3, No. 12
doi: 10.3205/ctt-2011-No12-abstract82

© The Authors. This abstract is provided under the following license: Creative Commons Attribution 3.0 Unported

Abstract accepted for "5th Raisa Gorbacheva Memorial Meeting Hematopoietic Stem Cell Transplantation in Children and Adults", Saint Petersburg, Russia, September 18–20, 2011

Preliminary Program

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IKZF1 (IKAROS) deletions as a marker of minimal residual disease for patients with acute leukemia

Anna V. Akimova, Maria V. Zagrivnaja, Ildar M. Barkhatov, Ludmila S. Zubarovskaya, Boris V. Afanasyev

R.M. Gorbacheva Memorial Institute of Children Hematology and Transplantation, St. Petersburg Pavlov State Medical University, St. Petersburg, Russia

Correspondence: Maria V. Zagrivnaja, R.M. Gorbacheva Memorial Institute of Children Hematology and Transplantation, St. Petersburg Pavlov State Medical University, 6/8, Tolstoy str., St. Petersburg, 197022, Russia, E-mail: zagrivnaya@spam is badyahoo.com

Abstract

Objective: The aim of our study was to develop methods for determining minimal residual disease (MRD) for patients with acute leukemia, using deletions in gene IKZF1 (transcription factor IKAROS) as a marker.

Methods: The presence of deletions Δ2-7 and Δ4-7 IKZF1 was examined in 53 patients with acute leukemia (AML: 23, ALL: 29, biphenotypic acute leukemia (BAL):1) at different stages of disease. Locus-specific primers and TaqMan probes for real-time PCR were designed to quantify deletions Δ2-7 and Δ4-7 IKZF1.

Results: The frequency of deletions IKZF1 in the general population of patients with acute leukemia was 11% (n=6), and in patients with ALL, 17% (n=5). But, at the same time, deletions were detected for 75% of patients with Ph-positive ALL. One patient with BAL had a deletion in the IKZF1 gene. Within the group of patients with AML above-mentioned mutations were not detected. IKZF1 mutations were found in the group of patients with detected chromosomal aberrations as well as in patients with normal karyotype tumor cells. The IKZF1 gene deletion was not detected in patients at molecular remission. At the same time the number of cells with deletion proportionally increased data on other markers: cytogenetic and molecular (a study of donor chimerism, the definition of the chimeric transcripts) at relapse.

Conclusions: Deletions in the gene IKZF1 can be used as a marker for evaluation of minimal residual disease in patients with ALL.

Keywords: IKZF1 deletions, IKAROS, minimal residual disease, acute lymphoblastic leukemia