Table 4 Summary of molecular findings and final classification of the cases.
Case | Original diagnosis | Morphologic patterna | Most relevant molecular alteration(s) | Final classification |
---|---|---|---|---|
1 | PSS | Patternless | NAB2-STAT6 fusion | Solitary fibrous tumor, high risk |
2 | PSS | Short fascicles | TPM3-NTRK1 fusion | Sarcoma with TPM3-NTRK1 rearrangement, intermediate grade |
3 | PSS | Patternless/Epithelioid | BCOR-MAML3 fusion | Sarcoma with BCOR-MAML3 rearrangement, intermediate grade |
4 | PSS | Epithelioid/Storiform | Biallelic inactivation of TP53, ATRX mutation, AR amplification, and MAPK4 amplification | Unclassified sarcoma, intermediate grade |
5 | PSS | Patternless/Epithelioid | Biallelic inactivation of TP53, ATRX mutation, and homozygous RB1 deletion | Unclassified sarcoma, high grade |
6 | PSS | Short fascicles/Storiform | Biallelic inactivation of PTEN and RASA1, homozygous deletion of CDKN2A/CDKN2B, homozygous deletion of NF1 and MET1 amplification | Unclassified sarcoma, low grade |
7 | PSS | Fibrosarcomatous/Soriform | KAT6B and SUFU mutations | Unclassified sarcoma, intermediate grade |
8 | PSS | Short fascicles | BCORL1 and TSC2 mutations | Unclassified sarcoma, high grade |
9 | PSS | Short fascicles/Patternless | Biallelic inactivation of ARID1A | Unclassified sarcoma, high grade |
10 | PSS | Short fascicles | NA (failed sequencing/low DNA) | Unclassified sarcoma, intermediate grade |
11 | PSSb | Patternless/Epithelioidb | Biallelic inactivation of both TP53 and CHEK2 | Unclassified sarcoma, intermediate grade |
STUMPb | Myxoidb | Biallelic incativation of TP53 and CHEK2 mutation | ||
12 | STUMP | Patternless | JAZF1-SUZ12 fusion and biallelic inactivation of BCOR | Low-grade endometrial stromal sarcoma-like sarcoma |
13 | STUMP | Phyllodes | RGPD2-FOXO1 rearrangement and HOXB13 amplification | Mesenchymal tumors of uncertain malignant potential |
14 | STUMP | Degenerative atypia | Biallelic inactivation of TP53 and PALB2 rearrangement | Unclassified sarcoma, low grade |
15 | STUMPc | Phyllodes | TP53 mutation | Unclassified sarcoma, low gradec |
16 | STUMP | Phyllodes | Biallelic inactivation of TP53 and ATR mutation | Unclassified sarcoma, low grade |
17 | STUMP | Phyllodes | KMT2D mutation | Mesenchymal tumor of uncertain malignant potential |
18 | STUMP | Hypercellular | RSPO insertion/deletion | Mesenchymal tumor of uncertain malignant potential |
19 | STUMP | Hypercellular | POT1 mutation, MDM2 amplification, CDK4 amplification, ERBB3 amplification | Mesenchymal tumor of uncertain malignant potential |
20 | STUMP | Myxoid | Homozygous CHEK2 deletion | Mesenchymal tumor of uncertain malignant potential |
21 | STUMP | Myxoid | None found | Mesenchymal tumor of uncertain malignant potential |
22 | STUMP | Hypercellular | CIC-SERPINF fusion?d | Mesenchymal tumor of uncertain malignant potential |
23 | STUMP | Hypercellular | NA (failed sequencing/low DNA) | Mesenchymal tumor of uncertain malignant potential |
24 | STUMP | Hypercellular | NA (failed sequencing/low DNA) | Mesenchymal tumor of uncertain malignant potential |
25 | STUMP | Phyllodes | NA (failed sequencing/low DNA) | Mesenchymal tumor of uncertain malignant potential |