Table 4 Possible cases of SMARCA4-deficient uterine sarcoma previously reported in the literature
Case and references | Age (years) | Outcome | Original diagnosis | Immunohistochemistry | Likelihood of SMARCA4-deficient uterine sarcoma |
|---|---|---|---|---|---|
1 [14] | 26 | DOD at 5 months | Undifferentiated endometrial carcinoma | SMARCA4-deficient, MMR intact | High |
2 [41] | 39 | DOD at 17 months | Malignant rhabdoid tumor | Positive: vimentin Negative: keratins and desmin | Possible |
3 [28] | 33 | Unknown, but tumor involved bladder | Undifferentiated sarcoma with rhabdoid cells | Positive: vimentin, focally for keratins, EMA, CD10, INI-1 (intact) Negative: SMA, desmin, myogenin, S100, and CD99 negative | Possible |
4 [29] | 46 | Unknown | Malignant rhabdoid tumor | Positive: vimentin, keratins, EMA Negative: MSA, desmin, myoglobin | Possible |
5 [30] | 37 | DOD at 4 months | Malignant rhabdoid tumor of uterine corpus | Positive: vimentin Negative: keratins, EMA | Possible |
6 [42] | 36 | ANED at 38 months | Malignant rhabdoid tumor of uterine cervix | Positive: vimentin Negative: keratin, desmin, myoglobin, CD34, EMA, S100, HMB-45 | Possible |
7 [43] | 71 | Died 11 days post-op | Uterine sarcoma with features of malignant rhabdoid tumor | Positive: keratin, EMA, vimentin | Possible |
8 [44] | 56 | ANED at 7 months | Uterine rhabdoid tumor | Positive: keratins, vimentin | Possible |
51–72 | ANED at 14 months, dead from other causes at 6 months, DOD in 2.5 and 3 months, no follow-up in one case | Carcinosarcoma with rhabdoid tumor component/features | Positive: keratins in carcinomatous component | Low; likely carcinosarcoma with rhabdomyoblastic differentiation | |
14 [48] | 49 | DOD at 4 months | Collision of uterine rhabdoid tumor and endometrioid adenocarcinoma | Positive: keratins in carcinoma, vimentin in rhabdoid component Negative: keratins in rhabdoid component, vimentin in carcinoma | Low; possible dedifferentiated carcinoma |
