TABLE 1.
Case | Age (yrs)/Sex | Location | Initial diagnosis | Final diagnosis | SMARCB1 deletion | EWSR1 break apart FISH result | Other pertinent results |
---|---|---|---|---|---|---|---|
1 | 3/F | Clivus | Myoepithelial carcinoma | Poorly differentiated chordoma | Homozygous | Break-apart with deletion | T-brachyury IHC positive |
2 | 5/M | Abdominal wall | Ewing sarcoma | Malignant rhabdoid tumor | Homozygous | Break-apart with deletion | FLI1, ERG FISH negative |
3 | 16/F | Dura mater | Myoepithelial carcinoma | Myoepithelial carcinoma | Homozygous | Heterozygous deletion and break-apart | POU5F1, PBX1/3, KLF17 FISH negative |
4 | 21/M | Groin | Extraskeletal myxoid chondrosarcoma | Epithelioid sarcoma | Heterozygous | Heterozygous deletion | NR4A5 FISH negative |
FISH, fluorescence in situ hybridization; IHC, immunohistochemistry..