Table 1 The previously reported AML cases with inv(16) and 3’CBFB deletion

Case 1

M

24

46,XY,inv(16)(p13.1q22)[16]/47,idem,+22[4]

nuc ish(5’CBFBx2,3’CBFB×1)(5’CBFB con 3’CBFB×1)[191/200]

arr[GRCh37] 16p13.11(15875744_16291983)× 1[0.9],16q22.1(67128019_68214140)×1[0.9],(22)×3[0.8]

Yes

36+

Case 2

M

47

48,XY,+9,inv(16)(p13.1q22),+22[20]

nuc ish(5’CBFBx2,3’CBFBx1)(5’CBFB con 3’CBFB×1)[167/200]

arr[GRCh37] (9)×3[0.7],16p13.11p12.3(15817490_16869754)×1[0.7],16q22.1(67113418_68099821)×1[0.7],(22)×3[0.7]

Yes

48+

Dawson et al.

M

30

46,XY,del(7)(q32),del(16)(q22)[10]

ish der(16)inv(16)(p13.1q22)del(16) (q22q24)(p13.3)(pter+)(p13.1)(5’CBFB+) (q22)(3’CBFB-)(q24)(qter+)[20]

arr[GRCh36] 16p13.11(15714571_16201064)× 1,16q22.1(65726391_66930693)×1

Yes

16+

Haferlach et al. case36

M

39

inv(16)(p13q22)

NA

arr16q22.1(65663366_66436096)x1

NA

NA

Haferlach et al. case37

M

70

45,X,-Y,inv(16)(p13q22)[17]/46,XY[3]

NA

arr16p13.11(15735443_16623582)x1,16q22.1(65654291_66288890)×1

NA

NA

Tirado et al.

M

13

46,XY,inv(16)(p13.1q22)[2]/46,idem,del(7)(q22q32)[16]/46,idem,t(9;22;19)(q34;q11.2;p13.1)[2]

ish inv(16)(p13.1)(5’CBFB+)(q22) (3’CBFB-)[20].nuc ish(5’CBFBx2,3’CBFB×1) (5’CBFB con 3’CBFB×1)[191/200]

ND

Yes

10+

Spencer et al.

M

8

46,XY,inv(16)(p13.1q22)[6]/46,XY,der(16)inv(16)del(16)(q22)[5]/46,XY[9]

Deletion of 3’CBFB

ND

Yes

2+

Hung et al.

M

32

46,XY,inv(16)(p13.1q22)[5]/46,idem,del(7)(q32)[9]/47,idem,+ 22[3]/48,idem,del(7)(q32),+20,+22[3]

Deletion of 3’CBFB

ND

Yes

Died

Kelly et al. case 1

F

76

46,XX,inv(16)(p13q22)[10]

Deletion of 3’CBFB

ND

Yes

4+

Kelly et al. case 2

F

20

46,XX,inv(16)(p13q22)[8]/46,XX[2]

Deletion of 3’CBFB

ND

No

NA

Kelly et al. case 3

M

68

47,XY,+8,inv(16)(p13q22)[12]/46,XY[3]

Deletion of 3’CBFB

ND

No

Died

Egan et al.

M

17

46,XY,inv(16)(p13.1q22)[17]/47,idem,+22[3]

Deletion of 3’CBFB

ND

Yes

Relapse

Kolomietz et al. case 1

NA

NA

inv(16)(p13q22)

Deletion of 3’CBFB

ND

Yes

Relapse

Kolomietz et al. case 2

NA

NA

inv(16)(p13q22)

Deletion of 3’CBFB

ND

No

Died

Pirc-Danoewinata et al.

F

18

47,XX,+22[20]^a

Deletion of 3’CBFB

ND

Yes

42+

Batanian et al.

M

2.5

46,XY,der(16)inv(16)(p13q22)del(16)(q22)[17]/45,idem,-Y[3]

Deletion of 3’CBFB

ND

Yes

NA