Newly defined and emerging neoplasms which have fusion/gene rearrangements included in diagnostic molecular pathology or diagnostic criteria in the fifth edition of the WHO Classification of Soft Tissue and Bone Tumours
| Neoplasm | Diagnostic molecular pathology | Essential and desirable diagnostic criteria |
| EWSR1::SMAD3 positive fibroblastic tumour | EWSR1::SMAD3 fusion | Essential: histology, immunophenotype Desirable: molecular (if available) |
| NTRK-rearranged spindle cell neoplasm | NTRK fusions | Essential: histology, immunophenotype including tumours with NTRK1 fusions showing NTRK1 immunoreactivity Desirable: detection of NTRK fusions is usually required for determination of therapy |
| Round cell sarcoma with EWSR1-non-ETS fusions | EWSR1::NFATC2, FUS::NFATC2, and EWSR1::PATZ1 fusions | Essential: histology and molecular Desirable: clinical-most NFATC2-rearranged tumours are located in long bones; PATZ1-rearranged sarcomas histology and immunophenotype (both myogenic and neurogenic) |
| CIC-rearranged sarcoma | CIC gene rearrangements | Essential: histology, immunophenotype Desirable: molecular (in selected cases) |
| Sarcoma with BCOR genetic alterations | BCOR gene rearrangements and BCOR-ITD | Essential: histology, immunophenotype Desirable (in selected cases): molecular |