Table 3 Cytogenetic and molecular findings.

From: iAMP21 in acute myeloid leukemia is associated with complex karyotype, TP53 mutation and dismal outcome

Case

Cytogenetic findings

Molecular mutation findings

Karyotype

FISH

Positive

Negative

NGS panel

1

46,XY,del(5)(q23),del(7)(q22q34),der(21)t(5;21)(q32;q22)[cp6]/73~92 < 4n >,XXYY,der(5)t(5;21)(q23;q22)x2[cp2]/46,XY[8]

RUNX1x8[142]/RUNX1x4[33]/ RUNX1x9–12)[9]/RUNX1x5[8]

RUNX1

All others

28-gene

2

48,X,-Y,+6,+8,+13,del(13)(q12q22),+15,−17,−17,+21, add(21)(q22),+der(?)t(?;21)(?;q22)[cp3]/46,XY[17]

RUNX1x4–5[152]

None

FLT3, CKIT, NPM1, RAS, CEBPA

ND

3

45,XY,−2,−5,del(7)(q32q34),psu dic(11;14)(q23;p11.2), del(12)(p11.2),+r,+mar[7]/45,idem,del(17)(p11.2)[5]/46,idem,+8[3]/45~46,idem,+8,+1~3mar[cp5]

RUNX1x4[97]/RUNX1x5~8[42]

TP53

All others

81-gene

4

47~53,XX,add(2)(q31),der(2)add(2)(p12)del(2)(q34q36),t(3;16)(p13;q24),del(5)(q13q33),−16,+21,+21,+21, i(21)(q10),+1~6mar[cp10]/46,XX[6]

RUNX1 amp[72]

TP53, NF1, DNMT3A

All others

81-gene

5

46~54,XX,del(5)(q22q35),+21,add(21)(q22)x2,+1~5mar[cp15]

RUNX1x4[22]/RUNX1x5~9[8]

None

All others

53-gene

6

41~47,XX,−4,add(4)(q27),−5,del(5)(q13q33),−7,−8,add(9)(p13), add(11)(p15),−13,−14,−16,der(17;21)(q10;q10),−18,−18,−19, der(19)t(19;21)(q13.3;q11.2),+add(21)(p11.2),add(21)(p11.2),−22, + 2~7mar[cp20]

RUNX1x4[154]/RUNX1x5[31]

TP53

CEBPA, FLT3

28-gene

7

40~47,XY,del(5)(q13q33),add(9)(q13),−16,−19,−21,−22,+1~2mar,1~4dmin[cp19]/46,XY[1]

RUNX1 amp[139]

TP53, PRPF40B

All others

81-gene

8

46,XY,der(21)i(21)(q10)dup(21)(q11.2q22)[6]/46,idem,del(7)(q22q32)[6]/46,XY[8]

RUNX1x4–7[152]

None

KIT, RAS, CEBPA, FLT3, NPM1

ND

9

46,XY,del(5)(q13q33),+10,del(11)(q12),der(11;20)(q10;p10),del(17)(p11.2),−18,hsr(21)(q22)[13]/ 46~48,idem,add(3)(q29),+der(11;20),+mar[cp7]

RUNX1x4[94]/RUNX1x3[3]*

TP53

All others

81-gene

10

48~57,XX,+1,+2,+6,+8,+11,+12,+14,add(17)(p11.2),+19,+add(21)(p11.1),+i(17)(q10),+1~4mar[cp6]/61~64,XXX,−3,−4,−5,−12,−16,−17,+21,add(21)(p11.2),i(21)(q10),+1~2mar[cp4]

RUNX1 amp[153]

TP53, DNMT3A

All others

81-gene

11

46,XX,i(5)(p10)[11]/42~45,XX,add(4)(p14),−5, del(5)(q13q33),−7,del(12)(q22q24.3),−19,hsr(21)(q22),+der(?)ins(?;21)(?;q21q22),+1~5mar[cp9]

RUNX1x4[20)/RUNX1x3[16]/ RUNX1x6[8]

TP53

All others

81-gene

12

46,XX,del(17)(p12)[4]/42~46,XX,del(5)(q22q31),+del(7)(p15),der(7)add(7)(p12)add(7)(q11.2),der(7;17)(q10;q10)add(7)(q21)ins(7;21)(?;q22q22),−12,r(21)hsr(21)(q22),+1~2mar[cp6]/ 46,XX[10]

RUNX1x5–7[157]

TP53

All others

81-gene

13

46,XY,−9,+21,add(21)(q22),add(21)(q22)[7]/46,idem,der(4)add(4)(q21)hsr(21)(q22)[8]/46,XY[5]

RUNX1 amp[122]

TP53

All others

81-gene

  1. *Cases #9 showed hsr(21)(q22) and cluster of RUNX1 signals on metaphases.
  2. NGS next-generation sequencing, FISH fluorescence in situ hybridization.
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