Article
Exome sequencing identifies putative drivers of progression of transient myeloproliferative disorder to AMKL in infants with Down syndrome.
Blood - 25 Jul 2013
Nikolaev Sergey I, Santoni Federico, Vannier Anne, Falconnet Emilie, Giarin Emanuela, Basso Giuseppe, Hoischen Alexander, Veltman Joris A, Groet Jurgen, Nizetic Dean, Antonarakis Stylianos E
Abstract excerpt
Some neonates with Down syndrome (DS) are diagnosed with self-regressing transient myeloproliferative disorder (TMD), and 20% to 30% of those progress to acute megakaryoblastic leukemia (AMKL). We performed exome sequencing in 7 TMD/AMKL cases and copy-number analysis in these and 10 additional cases. All TMD/AMKL samples contained GATA1 mutations. No exome-sequenced TMD/AMKL sample had other recurrently mutated...
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