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Table 1 Cytogenetic groups identified in a large series of CML patients at diagnosis

From: Non random distribution of genomic features in breakpoint regions involved in chronic myeloid leukemia cases with variant t(9;22) or additional chromosomal rearrangements

Cases

Chromosomal rearrangements

Ph chromosome

Deletions

5'BCR/3'ABL

location

5'ABL/3'BCR location

Variant t(9;22)

     

#1

t(1;9;22)(q32.1;q34;q11)

Ph+

del(1)(q32), del(9)(q34), del(22)(q11)

Ph

5'ABL deleted, 3'BCR on der(1)

#2

t(1;9;22)(p34.2;q34;q11)

Ph+

-

Ph

5'ABL on der(9), 3'BCR on der(1)

#3

der(9)t(9;22)(q34;q11), der(1)ins(1;22)

(p36;q11q13), der(22)t(9;22)

Ph+

-

Ph

5'ABL on der(9), 3'BCR on der(1)

#4

t(2;9;22)(q37.1;q34;q11)

Ph+

-

Ph

5'ABL on der(9), 3'BCR on der(2)

#5

t(3;9;22)(p21.31;q34;q11)

Ph+

del(22)(q11)

Ph

5'ABL on der(9), 3'BCR on der(3)

#6

t(3;9;22)(p21.31;q34;q11)

Ph+

-

Ph

5'ABL on der(9), 3'BCR on der(3)

#7

t(3;9;22)(p21.31;q34;q11)

Ph+

-

Ph

5'ABL on der(9), 3'BCR on der(3)

#8

t(4;9;22)(p16.3;q34;q11)

Ph+

del(9)(q34)

Ph

5'ABL on der(4), 3'BCR on der(4)

#9

t(4;9;22)(p16;q34;q11)

Ph+

del(9)(q34), del(22)(q11)

Ph

5'ABL on der(4), 3'BCR deleted

#10

t(4;9;22)(q12;q34;q11)

Ph+

del(4)(q12), del(22)(q11)

Ph

5'ABL deleted, 3'BCR on der(4)

#11

t(4;9;22)(p16.2;q34;q11)

Ph+

del(4)(p16), del(9)(q34), del(22)(q11)

Ph

5'ABL deleted, 3'BCR deleted

#12

t(6;9;22)(p12.3;q34;q11)

Ph+

del(6)(p12), del(9)(q34)

Ph

5'ABL deleted, 3'BCR on der(6)

#13

t(6;9;22)(p21.31;q34;q11)

Ph+

del(6)(p21p21), del(9)(q34q34),

del(22)(q11q11)

Ph

5'ABL deleted, 3'BCR on der(6)

#14

t(6;9;22)(q14.1;q34;q11)

Ph+(×2)

-

Ph

5'ABL on der(9), 3'BCR on der(6)

#15

t(7;9;22)(p14.3;q34;q11)

Ph+

del(7)(p14), del(9)(q34), del(22)(q11)

Ph

5'ABL deleted, 3'BCR deleted

#16

t(7;9;22)(p22;q34;q11)

Ph+

-

Ph

5'ABL on der(9), 3'BCR on der(7)

#17

der(9)t(9;22)(q34;q11), der(9)ins(9;9)

(q34;q22q34)

Ph+

-

Ph

5'ABL on der(9), 3'BCR on der(9)

#18

t(9;22;9;14)(q34;q11;p12;q11)

Ph+

-

Ph

5'ABL on der(9), 3'BCR on der(9)

#19

t(9;11;22)(q34;q13.1;q11)

Ph+

del(9)(q34), del(11)(q13), del(22)(q11)

Ph

5'ABL deleted, 3'BCR deleted

#20

t(9;11;22)(q34;q21;q11)

Ph+

-

Ph

5'ABL on der(9), 3'BCR on der(11)

#21

t(9;12;22)(q34;q23.3;q11)

Ph+

-

Ph

5'ABL on der(9), 3'BCR on der(12)

#22

t(9;12;22)(q34;q13.2;q11)

Ph+

-

Ph

5'ABL on der(9), 3'BCR on der(9)

#23

t(9;12;22)(q34;q24.31;q11)

Ph+

del(9)(q34), del(12)(q24), del(22)(q11)

Ph

5'ABL deleted, 3'BCR on der(12)

#24

t(9;12;22)(q34;q24.21;q11)

Ph+

-

Ph

5'ABL on der(9), 3'BCR on der(12)

#25

t(9;13;22)(q34;q14.12;q11)

Ph+

del(9)(q33q34), del(13)(q14), del(22)(q11)

Ph

5'ABL on der(13), 3'BCR deleted

#26

der(9)t(9;22)(q34;q11),

der(14)ins(14;9)(q32;q34q34), der(22)t(9;22)

Ph+

del(9)(q34), del(22)(q11)

Ph

5'ABL on der(14), 3'BCR on der(14)

#27

t(9;14;15;22)(q34;q24.2;?;q11)

Ph+

-

Ph

5'ABL on der(9), 3'BCR on der(14)

#28

t(9;15;22)(q34;q24.3;q11)

Ph+

-

Ph

5'ABL on der(9), 3'BCR on der(15)

#29

t(9;16;22) (q34;p11.2;q11)

Ph+

-

Ph

5'ABL on der(9), 3'BCR on der(16)

#30

t(9;16;17;22)(q34;q24.3;p13.1;q11)

Ph+

-

Ph

5'ABL on der(9), 3'BCR on der(17)

#31

t(9;17;22)(q34;q21.2;q11)

Ph+

-

Ph

5'ABL on der(9), 3'BCR on der(9)

#32

t(9;17;22) (q34;q25.3;q11)

Ph+

-

Ph

5'ABL on der(9), 3'BCR on der(17)

#33

t(9;17;22) (q34;p13.3;q11)

Ph+

-

Ph

5'ABL on der(9), 3'BCR on der(17)

#34

t(9;19;22)(q34;q13.32;q11)

Ph+

-

Ph

5'ABL on der(9), 3'BCR on der(19)

#35

t(9;21;22)(q34;q22.13;q11)

Ph+

del(9)(q34), del(21)(q22), del(22)(q11)

Ph

5'ABL deleted, 3'BCR deleted

#36

t(9;X;22)(q34;q13.1;q11)

Ph+

del(9)(q33q34)

Ph

5'ABL deleted, 3'BCR on der(X)

#37

t(7;9;22)(q22.2;q34;q11)

masked Ph

-

der(7)

5'ABL on der(9), 3'BCR on der(9)

#38

t(8;9;22)(p12;q34;q11)

masked Ph

-

der(8)

5'ABL on der(9), 3'BCR on der(9)

#39

t(9;10;22)(q34;p11.22;q11)

masked Ph

del(9)(q34), del(22)(q11)

der(10)

5'ABL deleted, 3'BCR deleted

#40

t(9;15;22)(q34;q24.1;q11)

masked Ph

-

der(22)

5'ABL on der(9), 3'BCR on der(9)

#41

t(6;9;12;22)(p22.1;q34;q13.13;q11)

masked Ph

del(9)(q34)

der(22)

5'ABL on der(9), 3'BCR on der(6)

#42*

der(9)ins(9;22)(q34;q11q11),

der(22)t(20;22)(q13.33;q11)

masked Ph

-

der(9)

5'ABL on der(9), 3'BCR on der(20)

#43*

der(22)t(12;22)(p13;q11)ins(22;9)(q11;q34q34)

masked Ph

del(9)(q34)

der(22)

5'ABL deleted, 3'BCR on der(12)

Cryptic insertions

    

#44

ins(9;22)(q34;q11q11)

Ph-

del(9)(q34), del(22)(q11q12)

der(9)

5'ABL deleted, 3'BCR on der(22)

#45

der(22)t(9;22)(q34;q11)ins(22;22)(q11;q11q12)

Ph-

-

der(22)

5'ABL on der(9), 3'BCR on der(22)

#46*

der(9)ins(22;9)(q11;q34q34)t(9;11)(p22.3;p15.4)

Ph-

-

der(22)

5'ABL on der(9), 3'BCR on der(22)

#47*

ins(9;22)(q34;q11q11), t(1;20;21)

Ph-

-

der(9)

5'ABL on der(9), 3'BCR on der(22)

#42*

der(9)ins(9;22)(q34;q11q11),

der(22)t(20;22)(q13.33;q11)

masked Ph

-

der(9)

5'ABL on der(9), 3'BCR on der(20)

#43*

der(22)t(12;22)(p13;q11)ins(22;9)(q11;q34q34)

masked Ph

del(9)(q34)

der(22)

5'ABL deleted, 3'BCR on der(12)

Additional chromosomal rearrangements

    

#48

t(9;22)(q34;q11), del(11)(q14q24)

Ph+

del(11)(q14q24)

Ph

5'ABL on der(9), 3'BCR on der(9)

#49

t(9;22)(q34;q11), t(14;15)(q32.31;q24.1)

Ph+

del(14)(q32), del(22)(q11)

Ph

5'ABL on der(9), 3'BCR on der(9)

#50

der(9)t(9;22)(q34;q11)t(9;11)(p24.1;q12.1)

Ph+

-

Ph

5'ABL on der(9), 3'BCR on der(9)

#46*

der(9)ins(22;9)(q11;q34q34)t(9;11)(p22.3;p15.4)

Ph-

-

der(22)

5'ABL on der(9), 3'BCR on der(22)

#47*

ins(9;22)(q34;q11q11), t(1;20;21)

Ph-

-

der(9)

5'ABL on der(9), 3'BCR on der(22)

  1. Three subgroups of CML patients have been identified according to the chromosomal rearrangements detected by FISH experiments: cases showing variant t(9;22) rearrangements, patients characterized by cryptic insertions of the ABL1 into the BCR region (or vice versa), and cases bearing additional chromosomal abnormalities. Cases #1- #36 showed a Ph+ chromosome together with a masked der(9) whereas a masked Ph in association with a classic der(9) was revealed in patients #37- #43. For each subgroup, the chromosomal rearrangements identified, the appearance of the der(22) chromosome, the occurrence of microdeletions next to chromosomal breakpoints, the location of the 5'BCR/3'ABL1 and of the 3'ABL1/5'BCR fusion genes are reported.
  2. * indicates cases included in several cytogenetic subgroups.
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Molecular Cancer

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