title: GATA1 as a new target to detect minimal residual disease in both transient leukemia and megakaryoblastic leukemia of Down syndrome.
abstract: 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.
authors.affiliation: Department of Pediatrics, New York Medical College, Valhalla, NY 10595, USA. sharon.pine@nymc.edu
authors.forename: Sharon R
authors.initials: SR
authors.lastname: Pine
authors.forename: Qianxu
authors.initials: Q
authors.lastname: Guo
authors.forename: Changhong
authors.initials: C
authors.lastname: Yin
authors.forename: Somasundaram
authors.initials: S
authors.lastname: Jayabose
authors.forename: Oya
authors.initials: O
authors.lastname: Levendoglu-Tugal
authors.forename: M Fevzi
authors.initials: MF
authors.lastname: Ozkaynak
authors.forename: Claudio
authors.initials: C
authors.lastname: Sandoval
mesh_terms: D002675:Child, Preschool; D002891:Chromosomes, Human, Pair 21 / Q000235:genetics; D003001:Cloning, Molecular; D004314:Down Syndrome / Q000150:complications / Q000235:genetics*; D005091:Exons; D005260:Female; D050982:GATA1 Transcription Factor / Q000235:genetics*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007938:Leukemia / Q000150:complications / Q000175:diagnosis* / Q000235:genetics*; D007947:Leukemia, Megakaryoblastic, Acute / Q000150:complications / Q000175:diagnosis* / Q000235:genetics*; D008297:Male; D009154:Mutation; D018365:Neoplasm, Residual; D016133:Polymerase Chain Reaction / Q000379:methods; D012074:Remission Induction
chemical_list: D050982:GATA1 Transcription Factor