Table 2 |.
Details of 17 patients with a clarification in diagnosis after MTP
| GAIN ID | Diagnosis at enrollment | Pre-enrollment molecular testing | Alterations | Integrated diagnosis |
|---|---|---|---|---|
| 158 | Osteosarcoma | None | BCOR-CCNB3 | BCOR-CCNB3 sarcoma |
| 160 | Round cell malignant neoplasm | FOXO1 FISH, no rearrangement | EWSR1-WT1 | DSRCT |
| 193 | Primitive neuro-ectodermal tumor | EWSR1, FOXO1, SS18 FISH, no rearrangement, MYCN non-amplified | DICER1 p.C1197* DICER1 p.D1709N | DICER1-associated sarcoma |
| 234 | Round cell sarcoma consistent with DSRCT | EWSR1 FISH, no rearrangement | CTNNB1 p.S37F | Neoplasm, malignant |
| 276 | Malignant spindle cell neoplasm | SS18 FISH, no rearrangement, karyotype multiple abnormalities, no fusion | RBPMS-NTRK2 | NTRK-fusion malignancy |
| 028 | Round cell sarcoma, Ewing or Ewing-like | EWSR1 FISH, no rearrangement | EWSR1-FLI1 | Ewing sarcoma |
| 044 | Spindle cell tumor with rhabdomyosarcomatous differentiation | aCGH and ALK IHC | DICER1 c.904–1 G>A DICER1 p.D1709N | DICER1-associated sarcoma |
| 059 | Small round cell malignant neoplasm | EWSR1, FUS, BCOR, CIC FISH, no rearrangement | CIC-DUX4 | CIC-DUX4 sarcoma |
| 096 | Small round blue cell tumor | CCNB3 IHC | BCOR-CCNB3 | BCOR-CCNB3 |
| 154 | Small round blue cell tumor | EWSR1, CIC FISH, no rearrangement | EWSR1-CREB3L3 | Sclerosing epithelioid fibrosarcoma OR low-grade fibromyxoid sarcoma |
| 194 | Sarcoma arising in fibrous hamartoma of infancy | None | ERC1-BRAF | Fusion-positive spindle cell sarcoma |
| 199 | Sarcoma with features of ossifying fibromyxoid tumor | None | EWSR1-CREB3L1 | Sclerosing epithelioid fibrosarcoma OR low-grade fibromyxoid sarcoma |
| 284 | Renal cell carcinoma | None | TSC2 p.D1512Efs*9 | Eosinophilic granular subtype (indication for tuberous sclerosis evaluation) |
| 310 | Spindle cell process consistent with infantile fibromatosis | None | SEPTIN7-BRAF | Fusion-positive spindle cell sarcoma |
| 318 | Aneurysmal bone cyst | USP6 FISH, no rearrangement | TP53-USP6 | Osteosarcoma |
| 342 | Rhabdoid-like malignant neoplasm with retained INI1 expression | INI1 IHC | SMARCA4 p.A317Pfs*9 | Rhabdoid tumor |
| 371 | Congenital mesoblastic nephroma | None | PRMT7-RET | RET-fusion malignancy |
aCGH, array comparative genomic hybridization.