Introduction
Methods
Results
Patient | Age (years), sex | Primary tumor location, size (cm)* | IHC findings | Method of CIC rearrangement identification | Systemic treatment | Surgery | Radiation therapy | Time from initial diagnosis to death or most recent follow-up |
---|---|---|---|---|---|---|---|---|
1 | 33, F | R anterior chest wall 3.5 | Positive: CD99, ETV4, CAM5.2 Negative: NKX2.2, WT1, pancytokeratin, EMA, S100, SOX10, synaptophysin, CK20, CD34, CD45, desmin | FISH: positive for CIC rearrangement | VDC/IE | R1 excision R0 re-excision | No | NED, 24 months |
2 | 10, M | L scalp 4.5 | Positive: CD99, WT1 Negative: EMA, desmin, S100, TdT, OCT4, PLAP, pancytokeratin, NSE, synaptophysin, SOX10, CD30, CD31, CD34, CD68, MSA, MOC-31, BCOR, NKX2.2, ALK | Johns Hopkins Fusion Panel (Nanostring): negative for CIC::DUX4 FISH: positive for CIC rearrangement | None | Initial excisional biopsy R0 re-excision | No | NED, 28 months |
3 | 17, M | L gluteus maximus 18.3 | Positive: CD99, O13, TLE1, ERG, CD68, EMA; retained BAF47 and INI1 Negative: AE1, AE3, S100, desmin, SMA, myogenin, HMB45, CD3, CD20, TdT, keratin | FISH: positive for CIC rearrangement | VDC/IE | R0 excision | Yes | DOD, 18 months |
4 | 31, F | R lower extremity 3.9 | Positive: CD56, CD99, S100 (focal) Negative: CK7, CK8/18, AE1/AE3, EMA, CD34, desmin | FISH: positive for CIC rearrangement | VDC/IE, IT Pazopanib Lenvatinib Trabectedin | R0 excision RLL wedge resection of lung metastases | Yes | DOD, 21 months |
5 | 15, F | R dorsal foot 3 | Positive: CD99, CAM5.2, MNF116, CD31, TLE1, NKX2.2; retained INI1 Negative: S100, HMB45, melan A, MSA, desmin, myogenin, pancytokeratin, CD34, factor 8, EMA, CD45, tyrosinase, CD163 | NGS: CIC::DUX4 fusion | None | R1 excision | Yes | NED, 52 months |
6 | 43, F | R upper arm, bilateral lungs 8.8 | Positive: TLE1, S100, cytokeratin, AE1/AE3 Negative: EMA, CAM5.2, desmin | Targeted NGS RNA sequencing: CIC::DUX4 fusion | Ifosfamide + doxorubicin + investigational agent IT VAC | Biopsy only | Yes | DOD, 11 months |
7 | 21, M | R posterior calf, bilateral lungs 15.6 | Positive: BCOR; retained INI1 Negative: TdT, AE1/AE3, CD34, S100, myogenin, CD99 | NGS: CIC::DUX4 fusion | VDC/IE VIT Gemcitabine + docetaxel | R2 excision R0 re-excision | Yes | DOD, 21 months |
8 | 19, M | L upper arm, bilateral lungs 3.8 | Positive: WT1 (nuclear), DUX4 (nuclear), CD99 (patchy) Negative: CD30, CD34, CD45, SOX10, AE1/AE3, desmin, S100, SMA | Johns Hopkins Fusion Panel (Nanostring): negative | VDC/IE VIT | R0 excision Thoracotomy | Yes | DOD, 17 months |
9 | 67, M | L cervical chain lymph node 2.0 | Positive: p16, CD56, CD99, WT1, TLE1; retained INI1 and SMARCA4 Negative: AE1/AE3, Cam 5.2, EMA, CK7, p63, TTF1, GATA3, synaptophysin, GFAP, e-cadherin, S100, SOX10, SMA, desmin, CD34, CD45, CD3, CD20, CD10, CD30, CD31, CD68, CD117, PAX5, NKX2.2, BCOR, SATB2, NKX3.1, MDM2, STAT6, NUT1, ALK, mutant BRAF | Johns Hopkins Fusion Panel (Nanostring): CIC::DUX4 | None | Excision, margins unreported | Yes | NED, 15 months |
10 | 28, F | R breast 2.6 | Positive: pancytokeratin, CD31, CD99, WT1 (nuclear), BCOR Negative: S100, CD34, desmin, ERG, NKX2.2 | NGS: CIC::DUX4 fusion | VDC/IE | R0 excision | No | NED, 54 months |
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Cohort summary
Cohort summary | ||||
---|---|---|---|---|
Mean age | Patient sex (M/F) | Presentation (localized /metastatic) | Overall survival (months) | Progression-free survival (months) |
28.2 (range: 10–67) | 5 M/5 F | 7 Localized/3 Metastatic | 26.1 (95% CI [16.823–35.377]) | 21.8 (95% CI [10.600–32.960] |
p value | Hazard ratio | 95% CI of hazard ratio | |
---|---|---|---|
Tumor size < 5 cm | 0.005 | 0.154 | 0.023 to 1.016 |
Surgery | 0.887 | 0.858 | 0.086 to 8.545 |
Metastasis at diagnosis | 0.014 | 8.864 | 1.334 to 58.89 |
Chemotherapy | 0.092 | 5.299* | 0.763 to 36.82 |