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Table 1 Summary of clinical, immunohistochemical, and genetic findings of CCSST and CCSLGT cases

From: Detection of specific gene rearrangements by fluorescence in situ hybridization in 16 cases of clear cell sarcoma of soft tissue and 6 cases of clear cell sarcoma-like gastrointestinal tumor

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
  1. + 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
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Diagnostic Pathology

ISSN: 1746-1596

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