Table 1

Childhood leukemia cases sequenced for exon 14 JAK2 mutations

DiseaseTotal, nJAK2R683G, nJAK2R683S, nJAK2 WT, n
DS-ALL* 42 10 30 
BCP-ALL (HeH) 41 (23) 41 (23) 
DS-AMKL 13 13 
DiseaseTotal, nJAK2R683G, nJAK2R683S, nJAK2 WT, n
DS-ALL* 42 10 30 
BCP-ALL (HeH) 41 (23) 41 (23) 
DS-AMKL 13 13 

DS-ALL indicates Down syndrome acute lymphoblastic leukemia; HeH, high hyperdiploidy; BCP-ALL, B-cell precursor/common ALL (cALL); DS-AMKL, Down syndrome acute megakaryoblastic leukemia; and WT, wild type.

*

GATA1 mutation status unknown; 4 cases with matched remission DNA for sequencing, 7 with matched remission DNA for SNP arrays (see Tables S1,S3 for details).

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