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Table 1 Summary of published data for patients with etv6/abl1 fusion gene

From: Myeloproliferative neoplasm with ETV6-ABL1 fusion: a case report and literature review

No

Dg

Sex

Age

TKI

Outcome

Eosinophilia

Transcript type

G banding

FISH/ETV6

FISH/ABL1

Genome features

Reference

1

ALL

F

22 mo

No

Died

 

A

na

na

na

na

Papadopoulos et al, 1995 Cancer Research [3]

2

AML-M6

M

81

No

Died

 

B

t(9;12;14)(q34;p13;q22)/complex karyotype

na

na

na

Golub et al., 1996 Mol & Cellular Biology [7]

3

CML atypical

na

49

No

Died

Yes

B

na

na

na

na

Brunel et al., 1995 Leukemia [8]

4

CML

M

32

No

CR (>3Y)

Yes

B

46,XY,t(12;14)(p12;q11-13)

5’ETV6 on 9q34

ABL1 3’/5’ on 9q34

na

Andreasson et al., 1997 Genes, Chrom & Ca [9]

5

CML

M

59

No

Died

Yes

A,

46,XY,del(6)(p21),?t(9;12)(q34;p12)

5’ETV6 on 9q34

ABL1 3’/5’ on 9q34

na

Van Limbergen et al., 2001 Genes, Chrom & Ca [10]

6

T/ALL

M

4

No

Died

Yes

A,B

47,XXYc,del(6)(q15q23)

5’ETV6 on 9q34

ABL1 3’/5’ on 9q34

na

Van Limbergen et al., 2001 Genes, Chrom & Ca [10]

7

AML-M6/ CML/MBC

M

38

Yes

Died

na

A,B

46,XY

na

3’ABL1 on 12p

karyotype evolution

O’Brien et al., 2002 Blood [11]

8

CML

M

53

No

CR (>6Y)

Yes

A,B

46,XY

na

ABL1 3’/5’ on 9q34

na

Lin et al., 2002 Leukemia [12]

9

CML

F

44

Yes

CR (>6 M)

Yes

 

46,XX,t(9;12)(q34;p13)

5’-3’ETV6 on 9q34

ABL1 3’/5’ on 9q34

na

Keung et al., 2002 Ca Gen &Cytogen [13]

10

AML-M1

M

29

No

CR (>20 M post SCT)

Yes

A

46,XY,t(8;12)(p21;p13)

5’ETV6 on 8p21

3’ABL1 on 8p21

na

La Starza et al., 2002 Haematologica [14]

11

AML-M1 post RAEB

M

48

No

Died

Yes

B

46,XY,t(9;12)(q34;p13)

na

3’ABL1 on 12p

karyotype evolution

La Starza et al., 2002 Haematologica [14]

12

CML-MBC

M

36

Yes

Died

Yes

B

45,XY-7,t(9;12)(q34;q13)

na

3’ABL1 on 12p

karyotype evolution

Barbouti et al., 2003 Br J Haematol [15]

13

CML-LBC

M

72

Yes

CR (>12 M)

na

B

46,XY,t(12;17)(p11.2;p11.2)

5’ETV6 on 17p

3’ABL1 on 17p

 

Tirado et al., 2005 Ca Gen & Cytogen [16]

14

cMPN

F

65

No

Died

Yes

A,B

46,XX ,t(5;9)(q13;q34)

na

3’ABL1 on 12p

karyotype evolution

Meyer-Monard et al., 2005 Leukemia [17]

15

cMPN

M

57

No

CR (>15Y)

Yes

na

46,XY

na

3’ABL1 on 12p

na

Mozziconacci et al., 2007 Amer J of Haematol [18]

16

ALL

M

30

 

Died

 

A,B

45,XY,del(1)(q42),-9,-13,add(16)(p1?3),+mar

na

3’ABL1 on 12p

p16 loss

Baeumler et al., 2008 Ca Gen & Cytogen [19]

17

CML

F

24

Yes

CR (>7 M)

Yes

A

46,XX

5’ETV6 on 9q34

ABL1 3’/5’ on 9q34

loss ASS-ABL1 exon1

Kawamata et al., 2008 Genes,Chrom & Ca [20]

18

cMPN

F

61

Yes

CR (>3Y)

Yes

na

46,XX

5’-3’ETV6 on 12p

3’ABL1 on 12p

na

Nand et al., 2009 Leuk Research [21]

19

CML atypical

M

79

Yes

Died

Yes

na

46,XY

5’-3’ETV6 on 12p

3’ABL1 on 12p

na

Kelly et al., 2009 Ca Gen &Cytogen [22]

20

ALL

F

33

 

Died

No

A,B

46,XY, der(1)t(1;?)

na

normal

p16/p15 loss

Zuna et al., 2010 Genes,Chrom & Ca [4]

21

ALL

M

5

No

CR (>24 M)

Yes

A,B

46,XY

na

3’ABL1 on 12p

p16/p15 loss

Zuna et al., 2010 Genes,Chrom &Ca [4]

22

ALL

M

8 mo

Yes

Died

No

A,B

46,XX,t(8;9;12)(p12;q34;p13)

na

3’ABL1 on 12p

na

Zuna et al., 2010 Genes,Chrom & Ca [4]

23

ALL

F

8

Yes

CR( >10 M)

na

A,B

46.XX

na

3’ABL1 on 12p?

na

Malone A et al., 2010 Br J Haematol [6]

24

CML

M

36

Yes

CR(>5Y)

No

 

46,XY, t(9;12)(q34;p13)

na

3’ABL1 on 12p

normal UTX, ASXL1, EZH2, TET2 & IDH1/2

Perna et al., 2011 Haematologica [24]

25

T/ALL

na

na

na

na

na

na

na

na

na

na

Zhou et al., 2012 Annual Haematology [5]

26

T/ALL

na

na

na

na

na

na

na

na

na

na

Zhou et al., 2012 Annual Haematology [5]

27

AML

M

52

No

Died

Yes

B

46,XY[20]

5’-3’ETV6 on 12p

3’ABL1 on 12p

normal FLT3, cKit & NPM1

Park J et al., 2013 Acta Haematologica [23]

28

B/ALL

F

25

No

Died

No

A,B

46,XX,del(9)(p22), der(10)t(9;10)(q22;p15)

5’-3’ETV6 on 12p

3’ABL1 on 12p

na

Park J et al., 2013 Acta Haematologica [23]

29

CML

F

52

Yes

CR > 12 M

Yes

A,B

46,XX,t(9;12)(q34;p13)

5’ETV6 on 9q34

ABL1 3’/5’ on 9q34

37 CNAs

Current study

  1. Abbreviations: ALL Acute lymphoblastic leukemia, AML Acute myeloid leukemia, CML Chronic myeloid leukemia, MPN Myeloproliferative disease, MBC Myeloid blast crisis, LBC Lymphoid blast crisis, F Female, M male, CR Cytogenetic remission, Na not available, CNAs Copy number aberrations.