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Blood, 15 September 2007, Vol. 110, No. 6, pp. 2128-2131.
Prepublished online as a Blood First Edition Paper on June 18, 2007; DOI 10.1182/blood-2007-01-069542.
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Submitted January 24, 2007
Accepted June 10, 2007
Incidence and clinical implications of GATA1 mutations in newborns with Down syndrome
Sharon R Pine*, Qianxu Guo, Changhong Yin, Somasundaram Jayabose, Charlotte M Druschel, and Claudio Sandoval
Department of Pediatrics, Division of Hematology/Oncology, Maria Fareri Children's Hospital and Westchster Medical Center, New York Medical College, Valhalla, NY, United States
Congenital Malformations Registry, New York State Department of Health, Troy, NY, United States
* Corresponding author; email: pines{at}mail.nih.gov.
Somatic mutations in the GATA1 gene are present in almost all cases of Down syndrome (DS)-associated acute megakaryoblastic leukemia (AMKL) and transient leukemia (TL). An in utero origin of the GATA1 mutation suggests it is an early leukemogenic event. To determine the detectable incidence and clinical relevance of GATA1 mutations in DS newborns, we screened Guthrie cards from 590 DS infants for mutations in the GATA1 gene. Twenty-two (3.8%) of 585 evaluable infants harbored a predicted functional GATA1 mutation; two were identified exclusively within intron 1. Hispanic newborns were 2.6 times more likely to have a mutated GATA1 gene than non-Hispanics (p=.02). Two newborns with a GATA1 mutation subsequently developed AMKL, and none of the infants without a functional GATA1 mutation were reported to have developed leukemia. In addition to screening for TL, a GATA1 mutation at birth might serve as a bio-marker for an increased risk of DS-related AMKL.
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