Table 2 Clinicopathologic features of cases of SMARCA4-deficient undifferentiated uterine sarcoma/malignant rhabdoid tumor of the uterus
Case | Age (years) | Follow-up | MMR IHC | SMARCA4 IHC | Claudin-4 IHC | SMARCB1 IHC | WT-1 IHC | HMB-45 IHC | Genomic alterations |
|---|---|---|---|---|---|---|---|---|---|
1 | 25 | DOD at 7 months | Intact | Lost | Negative | Intact | Negative | Negative | Failed MPS |
2 | 33 | DOD at 9 months | Intact | Lost | Negative | Intact | Negative | Negative | SMARCA4 c.3426delC frameshift SMARCA4 c.4759G>T nonsense TERT promoter mutation |
3 | 34 | DOD at 1 month | Intact | Lost | Rare cells | Intact | Positive | ND | SMARCA4 c.2554A>T nonsense ASXL1 c.1205G>A, p.R402Q missense |
4 | 29 | DOD at 4 months | ND | Lost | Negative | ND | ND | Negative | SMARCA4-PSG8 inversion ARID1B c.5687G>A, p.R1896Q missense |
5 | 58 | DOD at 43 months | ND | ND | ND | Intact | ND | Negative | SMARCA4 c.582_587GCCCCT>G frameshift NPRL2 c.428G>A SH2B3 c.1666G>A SMARCA4 c.598C>G, p.L200V (VUS) ZNF217 c.2061_2061A>TTA frameshift |
