Neonatal GATA1 mutant clones under the radar

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Presentation transcript:

Neonatal GATA1 mutant clones under the radar by Jeffrey W. Taub Blood Volume 122(24):3851-3853 December 5, 2013 ©2013 by American Society of Hematology

(1) Abnormal fetal myeloid progenitor department, where GATA1 mutant clones arise in the fetal liver; (2) 200 Down syndrome neonates are screened; (3) 195/200 (97.5%) have circulating blasts; (4) Sanger sequencing/denaturing high-performance liquid chromato... (1) Abnormal fetal myeloid progenitor department, where GATA1 mutant clones arise in the fetal liver; (2) 200 Down syndrome neonates are screened; (3) 195/200 (97.5%) have circulating blasts; (4) Sanger sequencing/denaturing high-performance liquid chromatography detects mutant GATA1 clones in 17/200 (8.5%) patients (TAM); (5) next-generation sequencing detects mutant GATA1 clones in 18/88 (20.4%) patients (“silent TAM”); (6) myeloid leukemia of Down syndrome develops in 3 TAM patients and 1 silent TAM patient. Professional illustration by Marie Dauenheimer. Jeffrey W. Taub Blood 2013;122:3851-3853 ©2013 by American Society of Hematology