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