Table 1 Clinicopathologic and molecular findings of YWHAE–NUTM2B/E and BCOR-ITD positive URCS and PMMTI.

From: Undifferentiated round cell sarcoma with BCOR internal tandem duplications (ITD) or YWHAE fusions: a clinicopathologic and molecular study

#

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

 
  1. N/A not available, RP retroperitoneum, F female, M male, mo months, abd abdominal, CPA cerebellopontine angle, med mediastinum, 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.
  2. aBy FISH.
  3. bBy PCR.
  4. cBy conventional karyotype.
  5. dBy whole transcriptome sequencing.
  6. eTargeted NGS sequencing.
  7. f17 cases previously reported [4].