Table 1.
Characteristics of patients, sampling study procedures, molecular profiling results, and matched treatments received per tumor types in the MAPPYACTS trial
| Diagnoses | Patients | Study procedures | Successful sequencing analysis | ≥1 actionable alteration | Ready for use alteration | Investigational or hypotheticala alterations (in genes altered in >3 patients) | ≥1 actionable alteration and FU >12 months | Targeted matched treatment | |
| n = 774 | n = 833 | n = 632 (74%) | n = 436 (69%) | n = 44 (10%) | n = 356 (82%) | n = 107 (30%) | |||
| SARCOMAS | 290 | 317 | 248 | 165 (68) | 5 (3) | 139 | 39 (23) | ||
| Osteosarcoma | 79 | 90 | 69 (77) | 56 (83) | 0 | TP53, CDKN2A/B, EGFR/ERBB2/3/4, MYC, RB1, TP53, AKT1/2/3, CDK4, IGF1R, MAP2K4, NOTCH1/2/3/4, PTEN | 50 | 14 | |
| Ewing sarcoma | 71 | 74 | 56 (76) | 23 (43) | 0 | CDKN2A/B, TP53 | 21 | 2 | |
| BCOR or CIC sarcoma | 6 | 6 | 4 (66) | 1 (25) | 0 | 1 | 0 | ||
| Other bone sarcoma | 1 | 2 | 1 (50) | 0 (0) | 0 | 0 | 0 | ||
| Rhabdomyosarcoma (RMS) | 70 | 77 | 62 (81) | 51 (85) | 0 | TP53, FGFR1/2/3/4, CDKN2A/B, MYCN, CDK4, PI3KCA | 44 | 14 | |
| Alveolar RMS | 34 | 37 | 30 (81) | 22 (76) | 0 | TP35, MYCN, CDK4 | 20 | 10 | |
| Embryonal RMS | 30 | 34 | 27 (79) | 25 (96) | 0 | TP53, FGFR1/2/3/4, CDKN2A/B | 20 | 3 | |
| RMS NOS | 6 | 6 | 5 (83) | 4 (80) | 0 | 4 | 1 | ||
| Non-RMS soft-tissue sarcoma (NRSTS) | 63 | 68 | 56 (82) | 34 (52) | 0 | SMARCB1, TP53, CDKN2A/B, NF1 | 25 | 9 | |
| DSRCT | 9 | 9 | 7 (78) | 1 (12) | 0 | 0 | 0 | ||
| MPNST | 5 | 5 | 5 (100) | 5 (100) | ROS1–GOPC (1) | NF1 | 5 | 3 | |
| Synovial sarcoma | 7 | 9 | 6 (67) | 1 (17) | 0 | 1 | 1 | ||
| Undifferentiated sarcoma | 8 | 9 | 8 (89) | 6 (75) | NTRK3–ETV6 (1), NTRK1–LMNA (1) | 5 | 1 | ||
| Rhabdoid tumor | 10 | 10 | 9 (90) | 9 (100) | 0 | SMARCB1 | 5 | 0 | |
| Other NRSTS | 24 | 26 | 21 (81) | 12 (57) | ALK–MYH9 (1), COL1A1–PDGFB (1) | 9 | 4 | ||
| OTHER SOLID TUMORS | 181 | 199 | 138 (69) | 93 (67) | 1 (1) | 69 | 20 (21) | ||
| Neuroblastoma | 104 | 117 | 73 (62) | 55 (75) | 0 | MYCN, 11q, ALK, CDKN2A/B, elevated mutational rate, HRAS, TP53 | 37 | 8 | |
| Carcinoma | 29 | 30 | 24 (77) | 11 (48) | RET–CCDC6 (1) | TP53 | 11 | 2 | |
| Wilms tumor | 27 | 29 | 24 (83) | 16 (64) | 0 | TP53 | 13 | 7 | |
| Hepatoblastoma | 8 | 8 | 8 (100) | 3 (37) | 0 | 2 | 1 | ||
| Other solid tumors | 13 | 15 | 9 (62) | 8 (89) | 0 | 6 | 2 | ||
| CNS TUMORS | 216 | 226 | 184 (82) | 125 (56) | 28 (22) | 103 | 47 (38) | ||
| High-grade glioma | 59 | 64 | 56 (87) | 54 (96) | See subsections midline/non-midline | TP53, CDKN2A/B, MLH1/MSH1/6, elevated mutational rate, PDGFRAa, BRAF, NF1, PI3KCA, PIK3R1, KDR, KIT | 45 | 13 | |
| Midline | 24 | 26 | 24 (92) | 22 (92) | NTRK1–BCAN (1), NTRK2–TLE4/KANK1/2 (3) | TP53, CDKN2A/B | 20 | 13 | |
| Non-midline | 35 | 38 | 32 (84) | 32 (100) | BRAF V600E (4), NTRK2–NACC2/TLE4 (2) | TP53, CDKN2A/B, elevated mutational rate, MLH1/MSH1/6, PIK3CA, PTEN, PDGFRAa, BRAF, NF1, PTEN | 25 | 14 | |
| Low-grade glioma | 23 | 24 | 17 (71) | 17 (88) | BRAF–KIAA1549 (10), NF1 germline (2), ROS1–GOPC (1) | 12 | 2 | ||
| Medulloblastoma | 52 | 53 | 44 (83) | 24 (55) | PTCH1 (4) mut/del, TP53/SMO wild-type | TP53, EGFR/ERBB2/3/4, MYC | 20 | 10 | |
| Ependymoma | 34 | 36 | 30 (83) | 7 (23) | 0 | 7 | 3 | ||
| Infratentorial | 23 | 25 | 20 (80) | 2 (10) | 0 | 2 | 1 | ||
| Supratentorial | 11 | 11 | 10 (91) | 5 (50) | 0 | 5 | 2 | ||
| Atypical teratoid rhabdoid tumor | 10 | 11 | 6 (55) | 6 (100) | NTRK3–SPECC1L (1) | SMARCB1 | 6 | 3 | |
| CNS germ cell tumors | 7 | 7 | 5 (71) | 4 (80) | 0 | 3 | 0 | ||
| Choroid plexus carcinoma | 6 | 6 | 5 (83) | 4 (80) | 0 | 2 | 0 | ||
| Other CNS tumors | 25 | 25 | 21 (84) | 7 (67) | 0 | 5 | 2 | ||
| LEUKEMIA | 54 | 57 | 46 (81) | 38 (81) | 1 (3) | 32 | 1 (1) | ||
| B-acute lymphoblastic leukemia | 20 | 20 | 18 (90) | 15 (83) | 0 | CDKN2A/B, KRAS, NRAS | 14 | 0 | |
| T-acute lymphoblastic leukemia | 14 | 15 | 13 (97) | 12 (92) | 0 | CDKN2A/B, NOTCH1/2/3/4 | 10 | 1 | |
| Acute myeloid leukemia | 17 | 19 | 12 (63) | 9 (69) | IDH1 R132L | 6 | 0 | ||
| Other leukemia | 3 | 3 | 3 (100) | 2 (67) | 0 | 2 | 0 | ||
| LYMPHOMA | 33 | 34 | 16 (47) | 15 (94) | 9 (60) | 13 | 0 (0) | ||
| Hodgkin lymphoma | 6 | 6 | 0 (0) | 0 (0) | 0 | 0 | 0 | ||
| Anaplastic large-cell lymphoma | 15 | 16 | 9 (56) | 9 (100) | ALK–NPM1/TFG/TRAF1 (9) | 8 | 0 | ||
| Other non-Hodgkin lymphoma | 12 | 12 | 7 (58) | 6 (86) | 0 | 5 | 0 |
Abbreviations: DSRCT, desmoplastic small round cell tumor; FU, follow-up; MPNST, malignant peripheral nerve sheath tumor; NOS, not otherwise specified.
aHypothetical evidence-level alterations.