Table 1 Inconsistent results observed at the DNA and RNA/protein levels in patients with exonic-breakpoint fusions
Case | Sex | Age | Diagnosis | DNA NGS | RNA NGS | FISH | IHC | |
|---|---|---|---|---|---|---|---|---|
Fusion | Other variants | |||||||
Open reading frame disruption | ||||||||
 P1 | M | 50 | ADC | EML4-ALK (exon 21: intron 19) | TP53 p.L194P | − | + | − |
 P2 | M | 66 | ADC | EML4-ALK (exon 21: intron 19) | None | − | + | − |
 P3 | M | 66 | ADC | LMNA-NTRK1 (exon 8: intron 11) | FGFR2 p.S799fs | − | N/A | − |
 P4 | M | 62 | ADC | FGFR1-NSD3 (exon 14: intron 19) | None | − | N/A | N/A |
 P5 | F | 46 | ADC | CD74-ROS1 (exon 7: exon 33) | CTNNB1 p.S45P | − | + | − |
5’-5’ fusion | ||||||||
 P6 | M | 54 | ADC | ADAMTS2-RET (intron 10: exon 3) | EML4-ALK | EML4-ALK | N/A | N/A |
 P7 | M | 81 | ADC | WNT2-MET (intron 2: exon 11) | TP53 p.H179R, RB1 p.K143fs | − | N/A | N/A |
 P8 | F | 58 | ADC | NAMPT-EGFR (intron 1: exon 17) | None | − | N/A | N/A |
 P9 | M | 66 | ADC | FGFR2-FAM170B-AS1 (intron 17: exon 1) | TP53 p.R337C | − | N/A | N/A |
3’-3’ fusion | ||||||||
 P10 | F | 76 | ADC | NKAIN2-ROS1 (intron 6: exon 35) | None | − | N/A | − |
 P11 | F | 67 | ADC | ZDHHC17-ALK (intron 1: exon 2) | EGFR p.E709_T710>D | − | N/A | − |