Table 1 Clinicopathologic and molecular findings of YWHAE–NUTM2B/E and BCOR-ITD positive URCS and PMMTI.
# | Age/gender | Site | Diagnosis (% myxoid) | Genetics | Follow up | LR | Mets | Treatment (Surgery—S/chemotherapy—Ch)/ Response |
---|---|---|---|---|---|---|---|---|
1abdf | 5 mo/F | Back | URCS (0%) | YWHAE-NUTM2B/E | NED (55 mo) | N | N | S + adjuvant Ch (IVA) |
2abcf | 4 mo/M | Pelvic | URCS (0%) | YWHAE-NUTM2B/E | DOD (3 mo) | N | Y (cerebellum) | S + adjuvant Ch |
3ac | 10 mo/M | Flank | URCS (0%) | YWHAE-NUTM2B/E | NED (192 mo) | N | N | Neoadjuvant Ch (VACA)/>50% necrosis on resection path response |
4a | 0 mo/M | Buttock/sacral-coccygeal | URCS (0%) | YWHAE-NUTM2B/E | DOD (12 mo) | N | Y | Ch |
5a | 2 mo/F | Abd wall | URCS (0%) | YWHAE | N/A | N/A | N/A | |
6bdf | 0 mo/M | Back | URCS (0%) | BCOR ITD (66 bp) | DOD (2 mo) | N | N | Ch (VAIA)/ No response to Ch |
7bdf | 0 mo/F | Pelvic | URCS (0%) | BCOR ITD (66 bp) | DOD (26 mo) | Y | Y | Ch (IVA/IVE/IVADo/cisplatin) + S |
8bdf | 3 mo/F | Jaw | URCS (0%) | BCOR ITD (66 bp) | DOD (8 mo) | N | N | Ch (VAC) + RT + S |
9bf | 11 mo/M | Chest wall | URCS (0%) | BCOR ITD (96 bp) | NED (54 mo) | N | N | S + Ch (VAIA) |
10bdf | 5 mo/M | Larynx | URCS (5%) | BCOR ITD (99 bp) | DOD (62 mo) | Y | Y | S + Ch (VA, then ID) |
11bf | 5 mo/M | RP/pelvis | URCS (5%) | BCOR ITD (n/a) | DOD (30 mo) | Y | N | S + Ch (IVADo) + S |
12bf | 10 mo/M | Para-vertebral | URCS (0%) | BCOR ITD (99 bp) | DOD (7 mo) | N | N | S + Ch (IVADo/IVE) + RT |
13b | 11 mo/F | Pre-sacral | URCS (0%) | BCOR ITD (129 bp) | DOD (13 mo) | N | Y (multiple brain mets) | Ch (VAC/IE) + S + brachytherapy/response to Ch: 90% reduction in tumor size |
14b | 6 mo/F | Intra-abd | URCS (0%) | BCOR ITD (n/a) | DOD (53 mo) | Y | N | S + Ch (VAC) |
15b | 6 mo/F | Abd wall | URCS (10%) | BCOR ITD (93 bp) | DOD (6 mo) | N | Y (B, ST, Lung) | Ch |
16b | 2/M | Abd/pelvic | URCS (0%) | BCOR ITD (93 bp) | N/A | N/A | N/A | |
17b | 19 mo/M | Brain, CPA/post fossa | URCS (0%) | BCOR ITD (126 bp) | AWD (56 mo) | Y | N | S + Ch + RT |
18bdf | 0 mo/F | Chest wall post med | URCS (10%) | BCOR ITD (93 bp) | N/A | N/A | N/A | |
19e | 16/M | Scapula | URCS (0%) | BCOR ITD (n/a) | N/A | N/A | N/A | |
20e | 17/M | Paraspinal | URCS (10%) | BCOR ITD (n/a) | NED (4 mo) | N | N | S + Ch (MAP) |
21b | 11 mo/F | Intracranial extra-axial | PMMTI (90%) | BCOR ITD (n/a) | N/A | N/A | N/A | |
22bdf | 2 mo/M | Para-spinal | PMMTI (90%) | BCOR ITD (96 bp) | NED (46 mo) | Y | Y | Ch (VA, then IVA) + S |
23bf | 4 mo/F | Para-vertebral | PMMTI (30%) | BCOR ITD (120 bp) | AWD (120 mo) | Y | Y | S + Ch (VA, the IVA) |
24bf | 9 mo/F | Abd wall | PMMTI (90%) | BCOR ITD (96 bp) | AWD (5 mo) | Y | N | N/A |
25b | 10 mo/M | Intra-thoracic | PMMTI (90%) | BCOR ITD (96 bp) | DOD (16 mo) | Y | Y | S; Ch (ICE) + hyperthermia for recurrence/no path response |
26b | 12 mo/F | Ankle | PMMTI (90%) | BCOR ITD (96 bp) | DOC (11 mo) | Y | Y (tibia, inguinal LN) | |
27bf | 0 mo/M | Neck | PMMTI (80%) | BCOR ITD (66 bp) | AWD (4 mo) | Y | N | S + adjuvant Ch |
28e | 12 mo/M | RP/intra-abd | PMMTI (90%) | BCOR ITD (n/a) | DOD (12 mo) | N | Y | Ch (IVA, VACA, irinotecan, temozolomide)/progress on treatment |
29bf | 3 mo/M | RP | PMMTI (90%) | BCOR ITD (96 bp) | DOD (3 mo) | N | N | Ch (IVADo) |
30b | 12 mo/M | Intraspinal L1-L5 | PMMTI (90%) | BCOR ITD (96 bp) | NED (24 mo) | N | N | S + Ch |
31b | 11 mo/F | Orbit | PMMTI (80%) | BCOR ITD (96 bp) | N/A | N/A | N/A | |
32bf | 6 mo/M | RP/para-vertebral | PMMTI (40%) | BCOR ITD (n/a) | N/A | N/A | N/A | |
33bf | 10 mo/F | Abd mass | PMMTI (40%) | BCOR ITD (63 bp) | N/A | N/A | N/A |