Transient neonatal myeloproliferative disorder without Down syndrome and detection of GATA1 mutation.
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.
Magalhães
Isis Quezado
IQ
Departamento de Hematologia/Oncologia Pediátrica SES-DF, Brasília, Brazil.
Splendore
Alessandra
A
Emerenciano
Mariana
M
Córdoba
Mara Santos
MS
Córdoba
Jose Carlos
JC
Allemand
Paula Azevedo
PA
Ferrari
Iris
I
Pombo-de-Oliveira
Maria S
MS
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*
D004268:DNA-Binding Proteins; D050981:Erythroid-Specific DNA-Binding Factors; D050982:GATA1 Transcription Factor; C494688:GATA1 protein, human; D014157:Transcription Factors