Table 1.
Summary of PATZ1-fused tumors previously reported in the literature
| Study | No. of cases | Fusion reported | Histopathologic features (ID in this series) |
|---|---|---|---|
| ‘CNS’ studies | |||
| Chadda et al. [6] | 1 | MN1:PATZ1 | Astroblastoma |
| Rossi et al. [38] | 1 | EWSR1:PATZ1 | Infantile Glioblastoma WHO Grade 4. Round monomorphous nuclei, cells with clear cytoplasm and oligodendroglia-like morphology, rich vascular network, microvascular proliferation, and microcysts |
| Lopez-Nunez et al. [23] | 1 | EWSR1:PATZ1 | Areas of cells with clear cytoplasm admixed with sheets of monotonous, round to spindled cells. “Malignant, poorly differentiated” |
| Burel-Vandenbos et al. [4] | 1 | MN1:PATZ1 | Malignant neuroepithelial tumor: hyperchromatic, polymorphous nuclei; clear cells, perivascular and stromal hyalinization, perivascular pseudorosettes, microcysts. (PATZ1-066) |
| Stichel et al. [45] | 3 |
EWSR1:PATZ1 MN1:PATZ1 |
Malignant neuroepithelial tumor with sarcomatous differentiation (PATZ1-014), glioneuronal tumor (PATZ-024), neuroepithelial neoplasia (PATZ-025) |
| Siegfried et al. [42] | 1 | EWSR1:PATZ1 | Low-grade glioneuronal tumor. Olig2 and synaptophysin positive cells with pleomorphic nuclei, vascular hyalinzation, pleomorphic clear cells (PATZ1-021)* |
| Alvarez-Breckenridge et al. [1] | 1 | EWSR1:PATZ1 | Glioneuronal tumor (no further details) |
| Johnson et al. [14] | 1 | EWSR1:PATZ1 | Low-grade glioma (no further details) |
| Qaddoumi et al. [35] | 1 | EWSR1:PATZ1 | BRAFV600E negative ganglioglioma (no further details) |
| ‘Sarcoma’ studies | |||
| Tsuda et al. [48] | 3 | EWSR1:PATZ1 | Round cell sarcomas |
| Pei et al. [33] | 1 | EWSR1:PATZ1 | GFAP positive and CD99 negative spinal intradural extramedullary tumor, eventually described as glioneuronal tumor. Monotonous spindle cells; abundant vasculature |
| Michal et al. [28] | 9 | EWSR1:PATZ1 | Spindle and round cell sarcomas |
| Bridge et al. [3] | 11 | EWSR1:PATZ1 | Morphologically variable; mostly undifferentiated or small round cell sarcomas, includes 4 CNS tumors |
| Chougule et al. [7] | 2 | EWSR1:PATZ1 | Spindle and round cell sarcomas |
| Watson et al. [52] | 5 | EWSR1:PATZ1 | Round cell sarcomas |
| Mastrangelo et al. [27] | 1 | EWSR1:PATZ1 | Small round cell tumor |
IHC immunohistochemistry
*PATZ-019 was also reported in Siegfried et al. [42], however, RNA-seq was only done on PATZ-021, revealing the EWSR1:PATZ1 rearrangement