TABLE I.
Summary of Clinicopathologic Characteristics, FISH, and RT-CPR Results
| Clinicopathologic Characteristics |
FISH Results |
|||||||||
|---|---|---|---|---|---|---|---|---|---|---|
| RMS# | Age | Sex | Location | Histologic Type | NCOA2 | SRF | TEAD1 | NCOA1 | PAX3 | FOXO1 a |
| 1b | 13 y | F | Thigh | Spindle cell | − | − | − | |||
| 2b,c | 7 mo | M | Posterior neck | Spindle cell | + | + | ||||
| 3b | 21 y | M | Pelvis | Spindle cell | − | − | − | |||
| 4d | 4 wks | M | Chest wall | Spindle cell | + | − | + | |||
| 5 | 3 mo | F | Chest wall | Spindle cell | + | − | − | − | ||
| 6 | 2 y | F | Buttock | Spindle cell | − | − | − | |||
| 7 | 2 y | M | Abdominal/pelvic | Spindle cell | − | − | − | |||
| 8 | 2 y | M | Paratesticular | Spindle cell | − | − | − | |||
| 9 | 6 y | M | Abdominal/pelvic | Spindle cell | − | − | − | |||
| 10 | 10 y | F | Paraspinal | Spindle cell | − | − | − | |||
| 11 | 14 y | M | Flank | Spindle cell, post-RT | − | − | − | |||
| 12 | 30 y | M | Spermatic cord | Spindle cell | − | − | − | − | ||
| 13 | 31 y | M | Prostate | Spindle cell | − | − | − | |||
| 14 | 50 y | M | Diaphragm | Spindle cell | − | − | − | |||
| 15 | 60 y | M | Abdominal wall | Spindle cell | − | − | − | |||
| 16 | 71 y | M | Neck | Spindle cell | − | − | − | |||
| 17 | 76 y | M | Thigh | Spindle cell | − | − | − | |||
| 18 | 13 y | F | Chest wall | Sclerosing | − | − | − | − | ||
| 19 | 15 y | F | Infra-temporal fossa | Sclerosing | − | − | − | − | ||
| 20 | 34 y | F | Buccal/masticator space | Sclerosing | − | − | − | − | ||
| 21 | 39 y | M | Lower leg | Sclerosing | − | − | − | |||
Y, year; mo, months; wks, weeks; RT, radiation therapy.
a
Cases tested either for FOXO1 by FISH or by RT-PCR for PAX3/7-FOXO1 fusion transcripts.
b
Tested by RNA-Seq and data-analyzed by Fusion-Seq.
c
RNA-seq results were confirmed by the presence of a t(6;8)(p12;q11.2) translocation and by RT-PCR assay.
d
TEAD1-NC0A2 fusion was confirmed by RT-PCR as well by the presence of a t(8;11) translocation on conventional karyotyping.