Comparison of alteration frequencies
| Tumor type and gene alteration | FM | Published frequency | Fisher exact test |
|---|---|---|---|
| Neuroblastoma | |||
| ALK point mutation | 14.3% (33/230) | 9.2% (22/240) | P = 0.0865 |
| PTPN11 point mutation | 1.3% (3/230) | 2.9% (7/240) | P = 0.3396 |
| ATRX point mutation | 1.8% (4/227)a | 2.5% (6/240) | P = 0.7522 |
| ATRX focal deletion | 4.0% (9/227)a | 7.1% (17/240) | P = 0.1610 |
| MYCN point mutation | 0.9% (2/230) | 1.7% (4/240) | P = 0.6859 |
| MYCN focal amplification | 25.7% (59/230) | 32.0% (77/240) | P = 0.1284 |
| NRAS point mutation | 2.6% (6/230) | 0.8% (2/240) | P = 0.1677 |
| ALL | |||
| ETV6–RUNX1 rearrangement | 12.0% (10/83) | 19.4% (47/242) | P = 0.1362 |
| TCF3–PBX1 rearrangement | 2.4% (2/83)a | 7.0% (17/242) | P = 0.1749 |
| BCR–ABL1 rearrangement | 1.1% (1/89) | 3.7% (9/242) | P = 0.2986 |
| MLL rearrangement | 4.8% (4/83)a | 11.4% (16/140) | P = 0.1442 |
| P2RY8–CRLF2 rearrangement | 4.8% (4/83)a | 7% (19/272) | P = 0.6151 |
| PAX5 rearrangement | 6.0% (5/83)a | 2.2% (10/446) | P = 0.0697 |
| PICALM-MLLT10 rearrangement | 2.4% (2/83)a | 9.5% (4/42) | P = 0.1778 |
| AML | |||
| FLT3 internal tandem duplication | 5.5% (4/73) | 16.5% (15/91) | P = 0.0472 |
| NPM1 point mutation | 4.1% (3/73) | 7.8% (23/295) | P = 0.4422 |
| CEBPA point mutation | 6.8% (5/73) | 4.5% (38/847) | P = 0.3785 |
| Fusion-negative RMS | |||
| NRAS point mutation | 6.7% (3/45) | 11.7% (11/94) | P = 0.5482 |
| FGFR4 point mutation | 4.4% (2/45) | 9.6% (9/94) | P = 0.5030 |
| PIK3CA point mutation | 2.2% (1/45) | 7.4% (7/94) | P = 0.4370 |
| BCOR point mutation | 6.7% (3/45) | 7.4% (7/94) | P = 1.00 |
| FBXW7 point mutation | 0% (0/45) | 7.4% (7/94) | P = 0.0960 |
| KRAS point mutation | 2.2% (1/45) | 6.4% (6/94) | P = 0.4279 |
| TP53 point mutation | 20% (9/45) | 5.3% (5/94) | P = 0.0132 |
| NF1 point mutation | 4.4% (2/45) | 5.3% (5/94) | P = 1.00 |
| HRAS point mutation | 2.2% (1/45) | 4.3% (4/94) | P = 1.00 |
| Medulloblastoma | |||
| CTNNB1 point mutation | 3.1% (1/32) | 6.5% (6/92) | P = 0.6760 |
| PTCH1 point mutation | 12.5% (4/32) | 7.6% (7/92) | P = 0.4722 |
| MLL2 point mutation | 6.3% (2/32) | 8.7% (8/92) | P = 1.00 |
| SMARCA4 point mutation | 3.1% (1/32) | 4.30% (4/92) | P = 1.00 |
| TP53 point mutation | 9.4% (3/32) | 3.3% (3/92) | P = 0.1775 |
| BCOR point mutation | 0% (0/31)a | 3.3% (3/92) | P = 0.5712 |
| DDX3X point mutation | 0% (0/5)a | 7.6% (7/92) | P = 1.00 |
| MYC amplification | 3.1% (1/32) | 1.1% (1/92) | P = 0.4511 |
| MYCN amplification | 12.5% (4/32) | 4.30% (4/92) | P = 0.2025 |
Abbreviation: FM, Foundation Medicine dataset.
↵aCorrects for the gene not being assayed on all versions of the test.