Table 1.
Summary of clinical, immunohistochemical, and genetic findings of CCSST and CCSLGT cases
| No. | Age (years) /Sex | Location | Tumor size (cm) | Outcome (months) | Immunohistochemistry | Fluorescence in situ hybridization (%) | Expected fusion genes by FISH | RT-PCR findings | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S-100 protein | Melan-A and/or HMB45 | SOX-10 | EWSR1 | ATF1 | CREB1 | CREM | |||||||
| 1 | 29/F | Leg | 5 | DOD (73) | + | + | NP | 72 | 48 | 2 | NP | EWSR1-ATF1 | NP |
| 2 | 41/M | Leg | 4 | DOD (62) | + | + | NP | 68 | ND | ND | NP | EWSR1- (unknown partner) | NP |
| 3 | 25/M | Leg | 8 | DOD (29) | + | + | NP | 50 | 32 | 4 | NP | EWSR1-ATF1 | EWSR1 exon 8-ATF1 exon 4 |
| 4 | 62/F | Leg | 2 | NED (6) | + | + | NP | 8 | 6 | 0 | NP | Unknown | EWSR1 exon 8-ATF1 exon 4 |
| 5 | 33/M | Leg | 2.5 | DOD (8) | + | + | NP | 16 | 0 | 0 | NP | EWSR1- (unknown partner) | EWSR1 exon 10-ATF1 exon 5 |
| 6 | 34/F | Leg | NA | AWD (16) | + | + | NP | 62 | 32 | 0 | NP | EWSR1-ATF1 | NP |
| 7 | 34/M | Leg | 6 | AWD (9) | + | + | NP | 76 | 66 | 6 | NP | EWSR1-ATF1 | NP |
| 8 | 12/F | Leg | 2 | NED (96) | + | – | – | 36 | 0 | 2 | 2 | EWSR1-(unknown partner) | NP |
| 9 | 39/F | Arm | 3 | DOD (10) | + | + | NP | 74 | 54 | ND | NP | EWSR1-ATF1 | NP |
| 10 | 69/F | Arm | 2 | DOD (26) | + | + | NP | 50 | 58 | 0 | NP | EWSR1-ATF1 | EWSR1 exon 8-ATF1 exon 4 |
| 11 | 41/M | Arm | 2.5 | AWD (11) | + | + | NP | 58 | 58 | 2 | NP | EWSR1-ATF1 | EWSR1 exon 10-ATF1 exon 5 |
| 12 | 40/M | Arm | 5.5 | AWD (23) | + | + | NP | 70 | 36 | 8 | NP | EWSR1-ATF1 | EWSR1 exon 8-ATF1 exon 5 |
| 13 | 49/F | Arm | 4 | AWD (24) | + | + | NP | 70 | 8 | 4 | 36 | EWSR1-CREM | * |
| 14 | 56/F | Arm | 3.9 | AWD (3) | + | + | NP | 80 | 86 | 2 | 0 | EWSR1-ATF1 | NP |
| 15 | 8/F | Abdominal wall | 9.5 | DOD (249) | + | + | NP | 50 | 36 | 0 | NP | EWSR1-ATF1 | NP |
| 16 | 43/M | Skin | 3 | NED (29) | + | – | NP | 84 | 76 | 0 | NP | EWSR1-ATF1 | NP |
| 17 | 41/F | Ileum | 4 | NED (28) | + | – | NP | 72 | 58 | 2 | NP | EWSR1-ATF1 | NP |
| 18 | 78/F | Ileum | 9 | NED (48) | + | – | + | 2 | 2 | 0 | 12 | (unknown partner)-CREM | NP |
| 19 | 38/F | Small intestine | 10 | DOD (17) | + | – | NP | 56 | 6 | 42 | NP | EWSR1-CREB1 | NP |
| 20 | 20/F | Ileum | 4 | NED (7) | + | – | + | 80 | 94 | 4 | NP | EWSR1-ATF1 | EWSR1 exon 8-ATF1 exon 4 |
| 21 | 47/F | Ileum | 4.5 | AWD (34) | + | – | + | 74 | 0 | 62 | NP | EWSR1-CREB1 | EWSR1 exon 7-CREB1 exon 7 |
| 22 | 57/M | Esophagus | 3 | NED (18) | + | – | + | 2 | 2 | 0 | 8 | Unknown | NP |
+ Positive, − Negative, AWD Alive with disease, NED No evidence of disease, DOD Died of disease, NA Not available, ND Not detected, NP Not performed, FISH Fluorescence in situ hybridization, RT-PCR Reverse transcription PCR; *, fusion gene was not detected by RT-PCR in formalin-fixed, paraffin-embedded materials