Table 3 Mutations and fusions detected by DNA and RNA sequencing.

From: Re-evaluating tumors of purported specialized prostatic stromal origin reveals molecular heterogeneity, including non-recurring gene fusions characteristic of uterine and soft tissue sarcoma subtypes

Case

Diagnosis

Morphologic patterna

TMB

Mutations/indels (DNA SEQ)

Rearrangements (DNA SEQ)

RNA SEQ

Fusions

1

PSS

Patternless

Nab

None found

NAB2-STAT6

Yes

NAB2-STAT6

2

PSS

Short fascicles

6.1

None found

TPM3-NTRK1

No

NA

3

PSS

Patternless/Epithelioid

6.1

POLQ p.S1694*

BCOR

Yes

BCOR-MAML3

4

PSS

Epithelioid/Storiform

6.1

ATRX p.Y1850*

TP53

Yes

Failed

5

PSS

Patternless/Epithelioid

9.9

TP53 p.E343*

None found

Yes

Failed

    

ATRX p.K2158Nfs*9

None found

  

6

PSS

Short fascicles/Storiform

6.1

RASA1 p.Y528Cfs*4

None found

No

NA

    

PTEN p.T319*

None found

  

7

PSS

Fibrosarcomatous/Soriform

4.6

KAT6B p.E1204Gfs*14

None found

Yes

None found

    

SUFU p.E130Vfs*39

None found

  

8

PSS

Short fascicles

8.4

 

None found

Yes

None found

    

BCORL1 p.L1287Afs*29

None found

  

9

PSS

Short fascicles/Patternless

8.4

ARID1A p.R2116Tfs*33

None found

Yes

None found

    

ARID1A p.R1989*

None found

  
    

ARID1A p.V1058Efs*46

None found

  

10

PSS

Short fascicles

NA

NA (failed sequencing/low DNA)

NA (failed sequencing/low DNA)

No

NA

11

PSS

Patternless/Epithelioidc

6.1c

TP53 p.P117R

None found

No

NA

    

CHEK2 p.T367Mfs*15

   
 

STUMP

Myxoidc

6.1c

TP53 p.P117R

None found

No

NA

    

CHEK2 p.T367Mfs*15

   

12

STUMP

Patternless

3.8

BCOR p.E1151*

JAZF1-SUZ12

No

NA

13

STUMP

Phyllodes

2.3

None found

RGPD2-FOXO1

Yes

None found

14

STUMP

Degenerative atypia

2.3

TP53 p.G244D

CLOCK-TP53

Yes

CICd

     

PALB2

  

15

STUMPe

Phyllodes

NAb

TP53 p.A159P

None found

No

NA

16

STUMP

Phyllodes

3.8

TP53 p.N131del

None found

Yes

None found

    

ATR p.Q31*

None found

  

17

STUMP

Phyllodes

5.3

KMT2D p.E4025K

None found

Yes

None found

18

STUMP

Hypercellular

9.1

RSPO p.M16_C21del

None found

Yes

None found

19

STUMP

Hypercellular

2.3

POT1 splice site mutation

None found

Yes

ch12 eventsf

20

STUMP

Myxoid

3.0

None found

None found

Yes

None found

21

STUMP

Myxoid

NAb

None found

None found

Yes

None found

22

STUMP

Hypercellular

1.5

None found

None found

Yes

CIC-SERPINF1d

23

STUMP

Hypercellular

NA

NA (failed sequencing/low DNA)

NA (failed sequencing/low DNA)

Yes

None found

24

STUMP

Hypercellular

NA

NA (failed sequencing/low DNA)

NA (failed sequencing/low DNA)

No

NA

25

STUMP

Phyllodes

NA

NA (failed sequencing/low DNA)

NA (failed sequencing/low DNA)

No

NA

  1. ch chromosome, NA not available/applicable, SEQ sequencing, STUMP stromal tumor of uncertain malignant potential, PSS prostatic stromal sarcoma, TMB tumor mutational burden.
  2. aAs descibed in Herawi et al. [1].
  3. bTMB could not be calculated due to low mutational load or technical reasons.
  4. cIn the manuscript, this case was counted as a PSS; therefore, only the histopathologic features and TMB of the PSS component were quantified.
  5. dThese events were found at a low frequency and might be stochastic in nature.
  6. eThis case was initially diagnosed as STUMP, but later developed intraperitoneal metastases.
  7. fThese alterations in chrmosome 12 are usually surrogate markers of MDM2 amplification, as previously described by Dickson et al. [14].