TABLE 1.
Summary of reported tumors including indexed case with EWSR1::CREM gene fusion
| Diagnosis | Site | Morphologic features | Age (years)/sex (M/F) | Number of cases | Genomic breakpoint | Reference |
|---|---|---|---|---|---|---|
| Metastatic paraganglioma | Neck | Polygonal cells with focal nuclear atypia, solid and infiltrative growth pattern, tumor necrosis, intravascular tumor emboli | 36/M | 1 |
EWSR1 exon 7 CREM exon 6 |
Indexed case |
| Myxoid mesenchymal tumor |
Pelvis/distal extremities Cranium Cranium Pelvis/cranium Cranium |
Multinodular growth of epithelioid to spindle shaped cells arranged in nests and cords, fibromyxoid stroma, scattered lymphocytes Spindled/histiocytoid cells with pale eosinophilic cytoplasm Prominent myxoid background Ovoid/round cells with eosinophilic cytoplasm Heterogenous growth pattern with alteration in cell density Myxoid and chondroid stroma Round/ovoid cells with pale cytoplasm Alteration in cell density Myxoid background Monomorphic/mildly atypical cells with oval to spindled nuclei Myxoid matrix Vague nodular architecture |
33/F 55/F 65/F 9/M 20/F 15/F 18/M |
2 1 1 2 1 |
EWSR1 exon 10 CREM exon 7 EWSR1 exon 8 CREM exon 8 and 9 EWSR1 exon 7 CREM exon 7 Not reported EWSR1 exon 14 or 15 CREM exon 7 or intron 6 EWSR1 intron 9 CREM intron 3 |
Lee et al. 2022 12 Kambe et al. 2021 27 White et al. 2019 16 Kao et al. 2017 18 Bale et al. 2017 19 |
| Myxoid angiomatoid fibrous histiocytoma |
Neck Cranium Lung/distal extremities Cranium Cranium |
Syncytial cells in myxoid stroma, multinodular growth and pseudoangiomatoid spaces Polygonal/spindle shaped cells with eosinophilic cytoplasm and vesicular nucleus Small capillaries Myxoid stroma Multinodular myxoid growth, round to spindled cell, prominent lymphoid cuff Round to spindle shaped cells with clear to eosinophilic cytoplasm Alteration in cell density Collagenous to myxoid stroma Atypical histiocytic clear cells with round nuclei, Focal myxoid areas |
43/F 29/M 47/M 50/M 54/M 19/M Recurrence at age of 29 52/M |
1 1 3 1 1 |
EWSR1 exon 13 CREM exon 6 EWSR1 exon 7 CREM exon 7 Not reported EWSR1 exon 7 CREM exon 13 Not reported |
Lee et al. 2022 12 Tan et al. 2021 15 Yoshida et al. 2019 26 Gareton et al. 2018 17 Gilbert et al. 2022 25 |
| Spindled/small cell carcinoma |
Liver Abdomen/chest cavity |
Uniform oval to spindle shaped cells with indistinct cytoplasm Hyalinized stroma Small oval to round spindle cells, delicate collagen, and high mitotic activity |
15/M 15/M 63/M |
1 2 |
EWSR1 exon 11 CREM exon 7 EWSR1 exon 11 CREM exon 7 EWSR1 exon 14 CREM exon 7 |
Shibayama et al. 2022 13 Originally reported in Yoshida et al. 2019 26 Yoshida et al. 2019 26 |
| Clear cell carcinoma |
Buccal mucosa Oropharynx |
Tumor nests consisting of epithelioid and clear cells Partially hyalinized stroma Sheets, nests, and cords of clear cells Hyalinized stroma |
69/F 68/F 75/F 62/M |
1 3 |
Not reported EWSR1 exon 14 CREM exon 5 Not reported for case 2 EWSR1 exon 11 CREM exon 6 |
Hoshino et al. 2021 21 Chapman et al. 2018 20 |
|
Epithelioid Neoplasm |
Kidney |
Epithelioid cells with granular eosinophilic to clear cytoplasm Fibrous stroma |
55/M | 1 | Not reported | Agaimy et al. 2021 22 |
| Clear cell odontogenic carcinoma | Maxilla |
Clear cells and epidermoid cells arranged in clusters Hyalinized stroma |
63/M | 1 |
EWSR1 exon 9 CREM exon 4 |
Breik et al. 2021 24 |
| Clear cell mesenchymal neoplasm | Lungs |
Cuboidal cells with clear cytoplasm Hyalinized stroma |
56/M | 1 |
EWSR1 exon 14 CREM exon 6 |
Komatsu et al. 2020 23 |
| Mesenchymal neoplasm | Cranium | Small round blue cells | 31/M | 1 |
EWSR1 exon 15 CREM exon 5 |
Liu et al. 2020 14 |
| Clear cell sarcoma | Distal extremities | Spindle cells with amphophilic to clear cytoplasm and monomorphic nuclei | 49/F | 1 | Not reported | Yoshida et al. 2019 26 |