Table 1

Abnormal karyotypes in patients with NPM1-mutated AML from the Munich Leukemia Laboratory

PatientKaryotypeMRC
MLD   
    Aberrant 1 45,X,−Y[18]/46,XY[4] − 
    Aberrant 2 45,X,−Y[20] − 
    Aberrant 3 45,X,−Y[7]/44,X,−Y,dic(12;13)(p11;p11)[13] 
    Aberrant 4 45,X,−Y[20] − 
    Aberrant 5 45,X,−Y[20] − 
    Aberrant 6 46,XX,del(12)(p12)[8]/46,XX[15] 
    Aberrant 7 46,XX,del(9)(q22q34)[20] 
    Aberrant 8 46,XX,der(1)t(1;1)(p36;q12)[14]/46,XX[1] − 
    Aberrant 9 47,XX,+21[4]/46,XX[16] − 
    Aberrant 10 47,XX,+21[17]/46,XX[3] − 
    Aberrant 11 47,XX,+21[3]/46,XX[17] − 
    Aberrant 12 47,XX,+4[20] − 
    Aberrant 13 47,XX,+8[6]/46,XX[4] − 
    Aberrant 14 47,XX,+8[20]/46,XX[1] − 
    Aberrant 15 47,XY,+4[4]/46,XY[16] − 
    Aberrant 16 47,XY,+4[4]/46,XY[18] − 
    Aberrant 17 47,XY,+8[14]/46,XY[6] − 
    Aberrant 18 47,XY,+8[6]/46,XY[14] − 
    Aberrant 19 55,XY,+X,+4,+5,+8,+10,+13,+14,+17,+18[4]/47, XY,+X[8] 
    Aberrant 20 90,XXXX,−3,+8,+8,−10,−11,−17[5]/46,XX[15] 
MLD+   
    Aberrant 21 45,X,−Y[18]/46,XY[2] − 
    Aberrant 22 45,XY,−17,der(18)t(17;18)(q11;q23),del(20)(q12)[16]/ 46,XY[4] − 
    Aberrant 23 46,X,−Y,+8[17]/47,X,−Y,+8,+8[3] − 
    Aberrant 24 46,XX,del(9)(q22)[7]/46,XX[13] 
    Aberrant 25 46,XX,der(19)t(3;19)(q21;p13)[6]/47,XX,+8[2]/47,XX, der(19)t(3;19)(q21;p13),+8[2]/46,XX[1] − 
    Aberrant 26 46,XY,del(20)(q11)[11]/46,XY[9] − 
    Aberrant 27 46,XY,der(18)t(18;21)(p11;q11)[16]46,XY[4] − 
    Aberrant 28 46,XY,t(3;10)(q12;q21)*[20] − 
    Aberrant 29 47,XX,inv(2)(p12q21)*,+8[4]/46,XX,inv(2)(p12q21)*[16] − 
    Aberrant 30 47,XY,+4[15]/46,XY[5] − 
    Aberrant 31 47,XY,+8[14]/46,XY[6] − 
PatientKaryotypeMRC
MLD   
    Aberrant 1 45,X,−Y[18]/46,XY[4] − 
    Aberrant 2 45,X,−Y[20] − 
    Aberrant 3 45,X,−Y[7]/44,X,−Y,dic(12;13)(p11;p11)[13] 
    Aberrant 4 45,X,−Y[20] − 
    Aberrant 5 45,X,−Y[20] − 
    Aberrant 6 46,XX,del(12)(p12)[8]/46,XX[15] 
    Aberrant 7 46,XX,del(9)(q22q34)[20] 
    Aberrant 8 46,XX,der(1)t(1;1)(p36;q12)[14]/46,XX[1] − 
    Aberrant 9 47,XX,+21[4]/46,XX[16] − 
    Aberrant 10 47,XX,+21[17]/46,XX[3] − 
    Aberrant 11 47,XX,+21[3]/46,XX[17] − 
    Aberrant 12 47,XX,+4[20] − 
    Aberrant 13 47,XX,+8[6]/46,XX[4] − 
    Aberrant 14 47,XX,+8[20]/46,XX[1] − 
    Aberrant 15 47,XY,+4[4]/46,XY[16] − 
    Aberrant 16 47,XY,+4[4]/46,XY[18] − 
    Aberrant 17 47,XY,+8[14]/46,XY[6] − 
    Aberrant 18 47,XY,+8[6]/46,XY[14] − 
    Aberrant 19 55,XY,+X,+4,+5,+8,+10,+13,+14,+17,+18[4]/47, XY,+X[8] 
    Aberrant 20 90,XXXX,−3,+8,+8,−10,−11,−17[5]/46,XX[15] 
MLD+   
    Aberrant 21 45,X,−Y[18]/46,XY[2] − 
    Aberrant 22 45,XY,−17,der(18)t(17;18)(q11;q23),del(20)(q12)[16]/ 46,XY[4] − 
    Aberrant 23 46,X,−Y,+8[17]/47,X,−Y,+8,+8[3] − 
    Aberrant 24 46,XX,del(9)(q22)[7]/46,XX[13] 
    Aberrant 25 46,XX,der(19)t(3;19)(q21;p13)[6]/47,XX,+8[2]/47,XX, der(19)t(3;19)(q21;p13),+8[2]/46,XX[1] − 
    Aberrant 26 46,XY,del(20)(q11)[11]/46,XY[9] − 
    Aberrant 27 46,XY,der(18)t(18;21)(p11;q11)[16]46,XY[4] − 
    Aberrant 28 46,XY,t(3;10)(q12;q21)*[20] − 
    Aberrant 29 47,XX,inv(2)(p12q21)*,+8[4]/46,XX,inv(2)(p12q21)*[16] − 
    Aberrant 30 47,XY,+4[15]/46,XY[5] − 
    Aberrant 31 47,XY,+8[14]/46,XY[6] − 

MRC (myelodysplasia-related change) indicates which cases show cytogenetic abnormalities sufficient to diagnose acute myeloid leukemia (AML) with myelodysplasia-related features (according to World Health Organization [WHO] 200813 ); MLD+, cases with multilineage dysplasia (according to WHO 200813 ); and MLD, cases without multilineage dysplasia (according to WHO 200813 ).

*

Possible constitutional chromosomal aberration.

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