Table 2 Molecular characteristics and extended immunophenotype of eight mesenchymal tumors of the GI tract with NTRK rearrangements.
Case no. | Molecular | Method | Breakpoints | Additional immunohistochemistry |
|---|---|---|---|---|
1 | ETV6 rearrangement | ETV6 break-apart FISH | N/A | SOX10−, SMA−, desmin−, WT1−, GFAP− |
2 | ETV6–NTRK3 | UCSF500 and ETV6 break-apart FISH | In5–In14 | SMA+ (patchy) |
3 | TPM3–NTRK1 | UCSF500 | In8–In7 | SMA+ (patchy) |
4 | SPECC1L–NTRK3 | Knight Diagnostics | Ex9–Ex12 | SOX10−, SMA− |
5 | TPM3–NTRK1 | In-house (Mayo Clinic) | Ex8–Ex10 | SOX10−, claudin-1−, GLUT1−, STAT6−, EMA− |
6 | LMNA–NTRK1 | TruSight RNA Fusion panel | Ex2–In9 | SOX10−, EMA− |
7 | TPM3–NTRK1 | OncoPanel | In7–Ex9a | SOX10−, SMA−, desmin−, STAT6−, ALK−, pan-keratin− |
8 | TPR–NTRK1 | In-house (Mayo Clinic) | Ex21–Ex10 | SOX10−, microphthalmiaTF−, HMB45−, melan-A−, SDHB and H3K27me3 retained |
