Table 2.

Targeted NGS for 32 genes related to myeloid disorders in 2 matched diagnostic PDX IR AML pairs

GenePatient 14088Patient 14204
Diagnostic (VAF range)PDX (VAF range)Diagnostic
(VAF range)
PDX
(VAF range)
NRAS + (13.37-24.49)* + (1.85-42.82)*   
IDH1 + (46.18)* + (51.67)*   
DNMT3A + (93.74)* + (99.44)*  + (5.06-7.31) 
ASXL1  + (5.5-15.73)  + (5.71-64.27) 
CEBPA  + (5.24-23.77)  + (32.99-82.6) 
EZH2  + (19.9)  + (10.04-43.6) 
JAK2  + (9.3-11.16)  + (54.59-60.28) 
KMT2A  + (5.2-28.71)  + (5.02-83.99) 
MPL  + (8.83-10.89)  + (12.56-55.8) 
SETBP1  + (5.2-7.4)  + (22.49-46.37) 
WT1  + (9.32)  + (54.93) 
RUNX1  + (13.19-14.64) + (46.76)* + (12.71-65.57)* 
SRSF2   + (45.23)*  
ETV6    + (6.91-13.93) 
SF3B1    + (16.91) 
ZRSR2    + (7.97-9.07) 
ABL1     
BRAF     
CALR     
CBL     
CSF3     
CSNK1A1     
FLT3     
HRAS     
IDH2     
KIT     
KRAS     
NPM1     
PTPN11     
TET2     
TP53     
U2AF1     
GenePatient 14088Patient 14204
Diagnostic (VAF range)PDX (VAF range)Diagnostic
(VAF range)
PDX
(VAF range)
NRAS + (13.37-24.49)* + (1.85-42.82)*   
IDH1 + (46.18)* + (51.67)*   
DNMT3A + (93.74)* + (99.44)*  + (5.06-7.31) 
ASXL1  + (5.5-15.73)  + (5.71-64.27) 
CEBPA  + (5.24-23.77)  + (32.99-82.6) 
EZH2  + (19.9)  + (10.04-43.6) 
JAK2  + (9.3-11.16)  + (54.59-60.28) 
KMT2A  + (5.2-28.71)  + (5.02-83.99) 
MPL  + (8.83-10.89)  + (12.56-55.8) 
SETBP1  + (5.2-7.4)  + (22.49-46.37) 
WT1  + (9.32)  + (54.93) 
RUNX1  + (13.19-14.64) + (46.76)* + (12.71-65.57)* 
SRSF2   + (45.23)*  
ETV6    + (6.91-13.93) 
SF3B1    + (16.91) 
ZRSR2    + (7.97-9.07) 
ABL1     
BRAF     
CALR     
CBL     
CSF3     
CSNK1A1     
FLT3     
HRAS     
IDH2     
KIT     
KRAS     
NPM1     
PTPN11     
TET2     
TP53     
U2AF1     

VAF, variant allele frequency; − no pathogenic variants found; +, pathogenic variants found.

*

Mutations in myeloid genes found in the diagnostic patient sample and PDX.

Mutations in myeloid genes found only in PDX (absent at diagnosis).

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