title: Transient neonatal myeloproliferative disorder without Down syndrome and detection of GATA1 mutation.
abstract: Transient myeloproliferative disorder is a form of self-limited leukemia that occurs almost exclusively in neonates with Down syndrome. The authors report an unusual case of a newborn without constitutional trisomy 21 who developed undifferentiated leukemia and subsequently achieved clinical and molecular remission without chemotherapy. Cytogenetics and molecular analysis have shown trisomy 21 and GATA1 mutation restricted to leukemic cells. G-to-T transversion was detected, which is predicted to result in a premature stop codon (c.119G>T; pGlu67X) in diagnosis samples. These findings emphasize that there must be a powerful interaction between GATA1 and trisomy 21 in leukemogenesis process.
authors.affiliation: Departamento de Hematologia/Oncologia Pediátrica SES-DF, Brasília, Brazil.
authors.forename: Isis Quezado
authors.initials: IQ
authors.lastname: Magalhães
authors.forename: Alessandra
authors.initials: A
authors.lastname: Splendore
authors.forename: Mariana
authors.initials: M
authors.lastname: Emerenciano
authors.forename: Mara Santos
authors.initials: MS
authors.lastname: Córdoba
authors.forename: Jose Carlos
authors.initials: JC
authors.lastname: Córdoba
authors.forename: Paula Azevedo
authors.initials: PA
authors.lastname: Allemand
authors.forename: Iris
authors.initials: I
authors.lastname: Ferrari
authors.forename: Maria S
authors.initials: MS
authors.lastname: Pombo-de-Oliveira
mesh_terms: D001483:Base Sequence; D004268:DNA-Binding Proteins / Q000235:genetics*; D004314:Down Syndrome / Q000235:genetics*; D050981:Erythroid-Specific DNA-Binding Factors; D005260:Female; D050982:GATA1 Transcription Factor; D006801:Humans; D007231:Infant, Newborn; D007962:Leukocytes / Q000502:physiology; D009154:Mutation; D009196:Myeloproliferative Disorders / Q000235:genetics*; D009365:Neoplasm Regression, Spontaneous; D014157:Transcription Factors / Q000235:genetics*
chemical_list: D004268:DNA-Binding Proteins; D050981:Erythroid-Specific DNA-Binding Factors; D050982:GATA1 Transcription Factor; C494688:GATA1 protein, human; D014157:Transcription Factors