TABLE 2:
Summary of immunohistochemical and molecular findings in cohort of patients with hybrid schwannoma-perineurioma.
| Case | Immunohistochemistry | RNA-seq | FISH | ||||||
|---|---|---|---|---|---|---|---|---|---|
| S100 | SOX10 | CD34 | EMA | Claudin-1 | GLUT1 | H3K27me3 | |||
| Index | D+ | D+ | D+ | M+ | M+ | M+ | Intact | CHD7-VGLL3 | + / + |
| 2 | D+ | D+ | M+ | M+ | N/A | N/A | Intact | CHD7-VGLL3 | N/A |
| 3 | D+ | D+ | D+ | M+ | M+ | M+ | N/A | CHD7-VGLL3 | N/A |
| 4 | D+ | N/A | M+ | M+ | Multifocal | N/A | N/A | CHD7-VGLL3 | N/A |
| 5 | D+ | N/A | M+ | D+ | N/A | N/A | N/A | CHD7-VGLL3 | N/A |
| 6 | D+ | N/A | D+ | D+ | N/A | N/A | N/A | CHD7-VGLL3 | N/A |
| 7 | M+ | N/A | N/A | M+ | N/A | N/A | N/A | CHD7-VGLL3 | N/A |
| 8 | D+ | D+ | N/A | N/A | N/A | N/A | N/A | CHD7-VGLL3* | + / + |
| 9 | D+ | D+ | M+ | N/A | N/A | N/A | Intact | CHD7-VGLL3* | + / + |
| 10 | D+ | D+ | D+ | M+ | N/A | M+ | Intact | CHD7-VGLL3* | + / + |
| 11 | D+ | D+ | D+ | F+ | D+ | F+ | N/A | CHD9-VGLL3 | N/A |
| 12 | M+ | N/A | D+ | D+ | N/A | N/A | N/A | CHD9-VGLL3 | N/A |
| 13 | M+ | M+ | D+ | M+ | N/A | N/A | Intact | MAMLD1-VGLL3 | N/A |
| 14 | D+ | D+ | N/A | − | N/A | N/A | N/A | MAMLD1-VGLL3* | N/A / + |
| 15 | M+ | M+ | M+ | M+ | M+ | M+ | N/A | DST-BRAF | + / + |
| 16 | D+ | D+ | − | M+ | M+ | − | N/A | SQSTM1-CDX1 | N/A |
| 17 | M+ | N/A | M+ | M+ | M+ | N/A | N/A | Negative | − / − |
| 18 | D+ | N/A | N/A | M+ | M+ | N/A | N/A | Negative | − / − |
Abbreviations: EMA: epithelial membrane antigen; FISH: fluorescence in situ hybridization; N/A: not assessed; RNA-Seq: RNA sequencing; Quantification of immunohistochemistry: D+ diffusely positive, F+ focal positivity, M+ multifocal, − negative.
RNA-Seq performed using Archer platform (all other cases Illumina TruSight RNA Fusion platform).