title: Bi-allelic deletions within 13q14 and transient trisomy 21 with absence of GATA1s in pediatric acute megakaryoblastic leukemia.
abstract: Oligonucleotide array comparative genomic hybridization, karyotype and fluorescence in situ hybridization analyses were employed to delineate the cytogenetic abnormalities in a case of pediatric acute megakaryoblastic leukemia. Here we present a unique genetic profile that includes bi-allelic deletions within 13q14, where the retinoblastoma tumor suppressor gene (RB1) resides, as well as isolated trisomy 21 without a concomitant mutation in the hematopoietic transcription factor GATA1s and translocation (17;22), that does not involve the megakaryoblastic leukemia 1 (MKL1) gene located on chromosome 22. Alteration of the RB1 gene is most likely the critical leukemogenic event in this patient.
authors.affiliation: Department of Pediatrics, Yale University School of Medicine, New Haven, CT, USA. stephanie.massaro@yale.edu
authors.forename: Stephanie A
authors.initials: SA
authors.lastname: Massaro
authors.forename: Renu
authors.initials: R
authors.lastname: Bajaj
authors.forename: Farzana D
authors.initials: FD
authors.lastname: Pashankar
authors.forename: Deborah
authors.initials: D
authors.lastname: Ornstein
authors.forename: Patrick G
authors.initials: PG
authors.lastname: Gallagher
authors.forename: Diane S
authors.initials: DS
authors.lastname: Krause
authors.forename: Peining
authors.initials: P
authors.lastname: Li
mesh_terms: D002882:Chromosomes, Human, Pair 13 / Q000235:genetics*; D004268:DNA-Binding Proteins / Q000235:genetics; D004314:Down Syndrome / Q000235:genetics*; D005260:Female; D050982:GATA1 Transcription Factor / Q000235:genetics*; D006801:Humans; D007223:Infant; D007947:Leukemia, Megakaryoblastic, Acute / Q000235:genetics*; D015514:Oncogene Proteins, Fusion / Q000235:genetics; D016160:Retinoblastoma Protein / Q000235:genetics; D017384:Sequence Deletion; D015534:Trans-Activators; D014178:Translocation, Genetic
chemical_list: D004268:DNA-Binding Proteins; D050982:GATA1 Transcription Factor; C494688:GATA1 protein, human; C431575:MRTFA protein, human; D015514:Oncogene Proteins, Fusion; D016160:Retinoblastoma Protein; D015534:Trans-Activators