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 | + |