Table 1.
Genes and pathways targeted by recurring mutations in 12 WGS ETP ALL cases.
Gene | N | Case (Mutation) |
---|---|---|
JAK1 | 2 | 003 (S703I), 005 (I631>RGI) |
JAK3 | 3 | 012 (M511I), 013 (M511I), 007 (A573V) |
NRAS | 3 | 008 (Q61H), 012 (Q61P), 001 (Q61H) |
KRAS | 1 | 002 (G60D) |
BRAF | 1 | 002 (G466E) |
FLT3 | 1 | 011 (D835Y) |
RUNX1 | 3 | 006 (R166*), 011 (V124fs), 012 (V164A, translocation involving chrs 8,7,21,10) |
PHF6 | 3 | 012 (R274Q) 013 (M125I) 005 (exon 8 splice) |
ECT2L | 2 | 009 (V588G), 007 (E384D) |
EP300 | 2 | 006 (L1639P), 007 (exon 10 splice) |
GATA3 | 2 | 003 (R276Q), 007 (R276Q) |
GATA2 | 1 | 011 (R307W) |
RELN | 2 | 003 (S1719S) 011 (A2114A) |
IL7R | 2 | 007 (GCinsL243) 003 (V253>GFSV) |
EED | 3 | 001 and 006 (deletion), 004 (S259F) |
EZH2 | 2 | 009 (deletion) 013 (R684H) |
SUZ12 | 3 | 006 and 012 (deletion), 013 (S369fs) |
HNRNPA1 | 1 | 005 (F298fs) |
HNRNPR | 1 | 013 (S202fs) |