Table 1.
Clinicopathologic and molecular findings of YWHAE-NUTM2B/E and BCOR-ITD positive URCS and PMMTIs
| # | Age/Gender | Site | Diagnosis (% myxoid) | Genetics | Follow Up | LR | Mets | Treatment (Surgery -S/Chemotherapy - Ch) |
|---|---|---|---|---|---|---|---|---|
| 1*abd | 5 mo/F | back | URCS (0%) | YWHAE-NUTM2B/E | NED (55 mo) | N | N | S + adjuvant Ch (IVA) |
| 2*abc | 4 mo/M | pelvic | URCS (0%) | YWHAE-NUTM2B/E | DOD (3 mo) | N | Y (cerebellum) | S + adjuvant Ch |
| 3ac | 10 mo /M | flank | URCS | 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 | YWHAE-NUTM2B/E | DOD (12 mo) | N | Y | Ch |
| 5a | 2 mo/F | abd wall | URCS | YWHAE | N/A | N/A | N/A | |
| 6*bd | 0 mo/M | back | URCS | BCOR ITD (66bp) | DOD (2 mo) | N | N | Ch (VAIA) No response to Ch |
| 7*bd | 0 mo/F | pelvic | URCS (0%) | BCOR ITD (66bp) | DOD (26 mo) | Y | Y | Ch (IVA/IVE/IVADo/cisplatin) + S |
| 8*bd | 3 mo/F | jaw | URCS (0%) | BCOR ITD (66bp) | DOD (8 mo) | N | N | Ch (VAC) + RT + S |
| 9*b | 11 mo/M | chest wall | URCS (0%) | BCOR ITD (96bp) | NED (54 mo) | N | N | S + Ch (VAIA) |
| 10*bd | 5 mo/M | larynx | URCS (5%) | BCOR ITD (99bp) | DOD (62 mo) | Y | Y | S + Ch (VA, then ID) |
| 11*b | 5 mo/M | RP/pelvis | URCS (5%) | BCOR ITD (n/a) | DOD (30 mo) | Y | N | S + Ch (IVADo) + S |
| 12*b | 10 mo/M | para-vertebral | URCS (0%) | BCOR ITD (99bp) | DOD (7 mo) | N | N | S + Ch (IVADo/IVE) + RT |
| 13b | 11 mo/F | pre-sacral | URCS (0%) | BCOR ITD (129bp) | 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 | i-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 (93bp) | DOD (6 mo) | N | Y (B, ST, L) | Ch |
| 16b | 2/M | abd/pelvic | URCS (0%) | BCOR ITD (93bp) | N/A | N/A | N/A | |
| 17b | 19 mo/M | brain, CPA/post fossa | URCS (0%) | BCOR ITD (126bp) | AWD (56 mo) | Y | N | S + Ch + RT |
| 18*bd | 0 mo/F | chest wall post med | URCS hyb (10%) | BCOR ITD (93bp) | 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 | |
| 22*bd | 2 mo/M | paraspinal | PMMTI (90%) | BCOR ITD (96bp) | NED (46 mo) | Y | Y | Ch (VA, then IVA) + S |
| 23*b | 4 mo/F | para-vertebral | PMMTI (30%) | BCOR ITD (120bp) | AWD (120 mo) | Y | Y | S + Ch (VA, the IVA) |
| 24*b | 9 mo/F | abd wall | PMMTI (90%) | BCOR ITD (96bp) | AWD (5 mo) | Y | N | N/A |
| 25b | 10 mo/M | intra-thoracic | PMMTI (90%) | BCOR ITD (96bp) | DOD (16 mo) | Y | Y | S; Ch (ICE) + hyperthermia for recurrence, no path response |
| 26b | 12 mo/F | ankle | PMMTI (90%) | BCOR ITD (96bp) | DOC (11 mo) | Y | Y (tibia, inguinal LN) | |
| 27*b | 0 mo/M | neck, recurrent | PMMTI (80%) | BCOR ITD (66bp) | AWD (4 mo) | Y | N | S + adjuvant Ch |
| 28 e | 12 mo/M | RP/i-abd | PMMTI (90%) | BCOR ITD (n/a) | DOD (12 mo) | N | Y | Ch (IVA, VACA, irinotecan, temozolomide) |
| 29*b | 3 mo/M | RP | PMMTI (90%) | BCOR ITD (96bp) | DOD (3 mo) | N | N | Ch (IVADo) |
| 30b | 12 mo/M | Intraspinal L1-L5 | PMMTI (90%) | BCOR ITD (96bp) | NED (24 mo) | N | N | S + Ch |
| 31b | 11 mo/F | orbit | PMMTI (80%) | BCOR ITD (96bp) | N/A | N/A | N/A | |
| 32*b | 6 mo/M | RP/para-vertebral | PMMTI (40%) | BCOR ITD (n/a) | N/A | N/A | N/A | |
| 33*b | 10 mo/F | abd mass | PMMTI (40%) | BCOR ITD (63bp) | N/A | N/A | N/A |
17 cases previously reported4
by FISH
by PCR
by conventional karyotype
by whole transcriptome sequencing
targeted NGS sequencing
N/A, not available; RP, retroperitoneum; F, female; M, male; mo, months; abd, abdominal; NED, no evidence of disease; DOD, died of disease; AWD, alive with disease; DOC, died of other causes; LR, local recurrence; Mets, metastasis; Ch, chemotherapy; S, surgery; RT, radiotherapy; VA: vincristine-actinomycin-D; IVA: ifosfamide-vincristine-actinomycin-D; IVE: ifosfamide-vincristine, etoposide; VAIA: vincristine-actinomycin-D-ifosfamide-adriamycin; IVADo: ifosfamide-vincristine-actinomycin-D-doxorubicin; VACA: vincristine-actinomycin-D-cyclophosphamide; VACA: vincristine-actinomycin-D-cyclophosphamide-adriamycin; ID: ifosfamide-doxorubicin; IE: ifosfamide-etoposide; ICE: ifosfamide-carboplatin-etoposide;