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Table 2 Consistent results observed at the DNA and RNA/protein levels in patients with exonic-breakpoint fusions

From: Reliability analysis of exonic-breakpoint fusions identified by DNA sequencing for predicting the efficacy of targeted therapy in non-small cell lung cancer

Case

Sex

Age

Diagnosis

DNA NGS

RNA NGS

FISH

IHC

Fusion

Other variants

Exon skipping (5′ gene)

 P12

F

63

ADC

EML4-ALK (exon 14: intron 19)

TP53 p.E171K

EML4-ALK (exon 13: exon 20)

N/A

+

 P13

M

57

ADC

EML4-ALK (exon 14: intron 19)

None

EML4-ALK (exon 13: exon 20)

N/A

+

 P14

F

35

ADC

EML4-ALK (exon 21: intron 19)

None

EML4-ALK (exon 20: exon 20)

N/A

+

 P15

F

69

ADC

EML4-ALK (exon 14: intron 19)

None

EML4-ALK (exon 13: exon 20)

N/A

+

 P16

F

44

ADC

EML4-ALK (exon 21: intron 19)

None

EML4-ALK (exon 20: exon 20)

N/A

+

 P17

F

58

ADC

EML4-ALK (exon 21: intron 19)

PTEN p.E99*

EML4-ALK (exon 20: exon 20)

N/A

+

 P18

F

66

ADC

CD74-ROS1 (exon 7: intron 33)

TP53 p.R342fs

CD74-ROS1 (exon 6: exon 34)

N/A

3+

 P19

F

72

ADC

TPM3-ROS1 (3′UTR: intron 34)

None

TPM3-ROS1 (exon 6: exon 35)

N/A

1+

 P20

F

64

ADC

KIF5B-RET (exon 17: intron 11)

TP53 p.I232S

KIF5B-RET (exon 16: exon 12)

N/A

3+

 P21

F

70

ADC

CD74-NRG1 (exon 7: intron 5)

None

CD74-NRG1 (exon 6: exon 6)

N/A

N/A

 P22

M

55

ADC

EGFR-BCAR4 (exon 27: intron 2)

None

EGFR-BCAR4 (exon 26: exon 3)

N/A

N/A

Exon skipping (3′ gene)

 P23

M

63

ADC

EML4-ALK (intron 20: exon 19)

None

EML4-ALK (exon 20: exon 20)

+

+

 P24

M

70

ADC

EML4-ALK (intron 6: exon 18)

None

EML4-ALK (exon 6: exon 20); EML4-ALK (intron 6: exon 20)

N/A

+

 P25

F

63

ADC

EML4-ALK (intron 6: exon 19)

None

EML4-ALK (exon 6: exon 20)

N/A

+

 P26

F

72

ADC

CD74-ROS1 (intron 6: exon 32);

ROS1-CLK1

(intron 32: exon 4)

None

CD74-ROS1 (exon 6: exon 34); ROS1-CLK1

(exon 32: exon 3)

+

1+

 P27

M

56

ADC

CLTC-ROS1 (intron 31: exon 34)

TP53 p.G108S

CLTC-ROS1 (exon 31: exon 35)

N/A

N/A

 P28

F

78

ADC

CD74-ROS1 (intron 6: exon 33)

None

CD74-ROS1 (exon 6: exon 34)

N/A

3+

 P29

M

66

ADC

EZR-ROS1 (intron 10: exon 32)

TP53 p.R196*

EZR-ROS1 (exon 10: exon 34)

N/A

N/A

 P30

F

58

ADC

EZR-ROS1 (intron 10: exon 32)

None

EZR-ROS1 (exon 9: exon 34)

+

3+

 P31

F

40

LCNEC

KIF5B-RET (intron 15: exon 11)

STK11 p.G56_K64del

KIF5B-RET (exon 15: exon 12)

N/A

2+

 P32

F

32

ADC

KIF5B-RET (intron 15: exon 11)

RB1 p.S842fs, TP53 p.Y220C

KIF5B-RET (exon 15: exon 12)

N/A

3+

 P33

M

65

ADC

KIF5B-RET (intron 15: exon 11)

TP53 p.C275G

KIF5B-RET (exon 15: exon 12)

N/A

3+

 P34

F

46

ADC

KIF5B-RET (intron 15: exon 11)

None

KIF5B-RET (exon 15: exon 12)

N/A

2+

Exon skipping in complex rearrangements

 P35

M

59

ADC

C2orf91-ALK (exon 4: intron 19)

None

EML4-ALK (exon 20: exon 20)

N/A

N/A

 P36

M

57

ADC

CLHC1-ALK (intron 4: exon 19)

None

EML4-ALK (exon 13: exon 20)

N/A

+

Alternative 5′splice site

 P37

F

60

ADC

SLC34A2-ROS1 (exon 13: intron 33)

None

SLC34A2-ROS1 (exon 13: exon 34)

+

3+

Intron retention

 P38

M

76

ADC

EML4-ALK (intron 6: exon 20)

None

EML4-ALK (intron 6: exon 20)

N/A

+

Unknown mechanisms

 P39

F

50

ADC

EML4-ALK (exon 21: intron 19)

None

N/A

N/A

+

 P40

M

54

ADC

EML4-ALK (exon 14: intron 19)

None

N/A

N/A

+

 P41

M

55

ADC

EML4-ALK (exon 21: intron 19)

CDKN2A p.E26fs, NF1 p.D618fs

N/A

+

+

 P42

F

66

ADC

EML4-ALK (exon 14: intron 19)

None

N/A

N/A

+

 P43

F

26

ADC

PCARE-ALK (exon 1: intron 19)

None

N/A

N/A

+

 P44

M

64

ADC

EML4-ALK (exon 14: intron 19)

None

N/A

N/A

+

 P45

M

70

ADC

KIF5B-ALK (intron 20: exon 20)

TP53 p.E286K

N/A

+

+

 P46

F

51

ADC

PPP1CB-ALK (intron 4: exon 20)

None

N/A

N/A

+

 P47

F

45

ADC

EML4-ALK (intron 6: exon 19)

None

N/A

N/A

+

 P48

F

65

ADC

KIF5B-ALK (intron 15: exon 20)

TP53 p.K139N

N/A

N/A

+

 P49

F

63

ADC

EML4-ALK (intron 6: exon19)

None

N/A

N/A

+

 P50

M

41

ADC

FARS2-ALK (intron 1: exon 24)

None

N/A

N/A

+

 P51

M

59

ADC

PICALM-ALK (intron 19: exon 20)

None

N/A

N/A

+

 P52

M

33

ADC

EML4-ALK (intron 4: exon 19)

None

N/A

N/A

+

 P53

F

63

ADC

EML4-ALK (intron 6: exon 17)

None

N/A

N/A

+

 P54

F

65

ADC

EML4-ALK (intron 19: exon 20)

None

N/A

N/A

+

 P55

M

34

ADC

EML4-ALK (intron 14: exon 20)

TP53 p.H179Y

N/A

N/A

+

  1. F Female, M Male, ADC Adenocarcinoma, LCNEC Large cell neuroendocrine carcinoma, N/A Not available, NGS Next-generation sequencing, FISH Fluorescence in situ hybridization, IHC Immunohistochemistry, + positive, 1+ weak staining, 2+ moderate staining, 3+ strong staining