Table 1

Clinical features and genetic findings of the patients with CEBPA mutations

Patient no.Age, y/sexDiagnosisN terminal C terminal
KaryotypeOther gene mutation*Survival (years)
p30 typebZIP inframeFrameshift
MDS/AML 
    142 79/F AML following MDS I62fsX160 - - 46,XY[20/20] - 1.0 
    829 70/M AML following MDS P51fsX160 - - 45,XY,der(17;18) (q10;q10)[2/20]/46,XY[18/20] - 0.4 
    769 69/M AML following MDS - R297P - 46,XY[20/20] AML1, PTPN11 1.6 
    896 77/M AML following MDS - K313del - 46,XY[20/20] - 0.6 
    22 71/M AML following MDS - - G176fsX317 47,XY,+1,der(1;15) (q10;q10)[20/20] - 0.8 
    679 89/M MDS(RAEB) - - P235fsX318 46,XY[20/20] - 1.9 
    806 77/M AML following MDS G38fsX107 - R291fsX313 46,XY[20/20] - 1.9 
Therapy-related AML or MDS 
    59 80/F AML(M4) L19fsX159 - - 47,XX,+8,t(9;11) (p22;q23)[20/20] AML1 1.7 
    158 72/F AML following MDS F106fsX154 - - 46,XX[20/20] - 1.0 
    811 76/M MDS(RAEB) E59X† - - 46,XY[20/20] - 1.7 
    1068 66/M MDS(RAEB) - Q305P - 46,XY[20/20] - > 1.5 
    346 59/M AML following MDS - - S190fsX320 43,XX,del(5)(q31), -7,-15,-18,-21, +mar [20/20] N-RAS 0.8 
    577 56/F AML following MDS - - C213X 46,XX[20/20] - 2.4 
    629 89/F AML following MDS - - L350fsX360 46,XX[20/20] - 1.2 
    920 69/F AML(M5) - - S348fsX422 46,XX,t(11;17) (p15;q21)[20/20] - 0.2 
De novo AML(M2) 
    40 68/F AML(M2) A111fsX166 S299_L304dup - 46,XX[20/20] - > 10.5 
    292 75/F AML(M2) F33fsX107 R297P - 46,XX[20/20] - > 8.4 
    662 58/F AML(M2) S65fsX167 K313dup - 46,XX[20/20] - > 5.0 
    888 70/F AML(M2) A111fsX166 N321D - 47,XX,+8[20/20] - > 3.8 
    941 31/F AML(M2Eo) T60fsX159 304_323dup - 46,XX,del(7)(q32)[20/20] - > 3.5 
Patient no.Age, y/sexDiagnosisN terminal C terminal
KaryotypeOther gene mutation*Survival (years)
p30 typebZIP inframeFrameshift
MDS/AML 
    142 79/F AML following MDS I62fsX160 - - 46,XY[20/20] - 1.0 
    829 70/M AML following MDS P51fsX160 - - 45,XY,der(17;18) (q10;q10)[2/20]/46,XY[18/20] - 0.4 
    769 69/M AML following MDS - R297P - 46,XY[20/20] AML1, PTPN11 1.6 
    896 77/M AML following MDS - K313del - 46,XY[20/20] - 0.6 
    22 71/M AML following MDS - - G176fsX317 47,XY,+1,der(1;15) (q10;q10)[20/20] - 0.8 
    679 89/M MDS(RAEB) - - P235fsX318 46,XY[20/20] - 1.9 
    806 77/M AML following MDS G38fsX107 - R291fsX313 46,XY[20/20] - 1.9 
Therapy-related AML or MDS 
    59 80/F AML(M4) L19fsX159 - - 47,XX,+8,t(9;11) (p22;q23)[20/20] AML1 1.7 
    158 72/F AML following MDS F106fsX154 - - 46,XX[20/20] - 1.0 
    811 76/M MDS(RAEB) E59X† - - 46,XY[20/20] - 1.7 
    1068 66/M MDS(RAEB) - Q305P - 46,XY[20/20] - > 1.5 
    346 59/M AML following MDS - - S190fsX320 43,XX,del(5)(q31), -7,-15,-18,-21, +mar [20/20] N-RAS 0.8 
    577 56/F AML following MDS - - C213X 46,XX[20/20] - 2.4 
    629 89/F AML following MDS - - L350fsX360 46,XX[20/20] - 1.2 
    920 69/F AML(M5) - - S348fsX422 46,XX,t(11;17) (p15;q21)[20/20] - 0.2 
De novo AML(M2) 
    40 68/F AML(M2) A111fsX166 S299_L304dup - 46,XX[20/20] - > 10.5 
    292 75/F AML(M2) F33fsX107 R297P - 46,XX[20/20] - > 8.4 
    662 58/F AML(M2) S65fsX167 K313dup - 46,XX[20/20] - > 5.0 
    888 70/F AML(M2) A111fsX166 N321D - 47,XX,+8[20/20] - > 3.8 
    941 31/F AML(M2Eo) T60fsX159 304_323dup - 46,XX,del(7)(q32)[20/20] - > 3.5 

RAEB indicates refractory anemia with excess blasts.

*

Indicates that no mutation was detected in AML1, N-RAS, FLT3, PTPN11, C-KIT, and TP53 genes.

†

Homozygous mutation.

View Large
This Feature Is Available To Subscribers Only

or Create an Account

Close Modal
Close Modal