Down Syndrome Research Today is a free monthly online journal that collates and summarizes the latest research about Down Syndrome, including details on education, symptoms, treatment, information.

GATA1 as a new target to detect minimal residual disease in both transient leukemia and megakaryoblastic leukemia of Down syndrome.

Pine SR, Guo Q, Yin C, Jayabose S, Levendoglu-Tugal O, Ozkaynak MF, Sandoval C

Department of Pediatrics, New York Medical College, Valhalla, NY 10595, USA. sharon.pine@nymc.edu

Acquired mutations in exon 2 of the GATA1 gene are detected in most Down syndrome (DS) patients with transient leukemia (TL) and acute megakaryoblastic leukemia (AMKL). We sought to determine if GATA1 mutations can be utilized as markers for minimal residual disease (MRD). GATA1 mutations were screened by SSCP analysis and sequenced. Using GATA1 mutation-specific primers, follow-up bone marrow samples from four patients were assayed by quantitative PCR. We show that molecular monitoring of GATA1 mutations is possible in Down syndrome patients with TL and AMKL, and GATA1 could be a stable marker for MRD monitoring.

Published 16 September 2005 in Leuk Res, 29(11): 1353-6.
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