Table 3.
ATRX/ DAXX loss in ALT-associated human cancers.
| Tumor | ATRX Loss Only, n | DAXX Loss Only, n | Both ATRX and DAXX Loss, n | Total Tumors Tested, n | Total Mutant % * | ATRX/DAXX Mutant Cases that are ALT+, % | ALT+ Cases that are ATRX Mutant, % |
|---|---|---|---|---|---|---|---|
| Bone | |||||||
| Chondrosarcoma | 0 ** | N/A *** | N/A | 15 | 0% | N/A | N/A |
| Ewing Sarcoma | 0 | N/A | N/A | 12 | 0% | N/A | N/A |
| Osteosarcoma | 17 | 0 | 0 | 71 | 24% | 100% | 58% |
| Breast | |||||||
| Breast Carcinoma | 0 | 0 | 0 | 96 | 0% | N/A | N/A |
| CNS | |||||||
| Glioma | 403 | 7 | N/A | 1607 | 26% | 74% | 71% |
| Neuroendocrine | |||||||
| Neuroblastoma (NB) | 83 | 1 | 0 | 1052 | 8% | 92% | 67% |
| High Risk NB | 25 | 0 | 0 | 165 | 15% | N/A | 100% |
| PanNET | 218 | 153 | 23 | 1223 | 32% | 96% | 86% |
| Soft Tissue | |||||||
| Angiosarcoma | 16 | 0 | 2 | 77 | 21% | N/A | 88% |
| Leiomyoma | 6 | 1 | 0 | 206 | 3% | 43% | 67% |
| Leiomyosarcoma | 103 | 4 | 0 | 311 | 34% | 83% | 56% |
| Liposarcoma (LPS) | 39 | 1 | N/A | 203 | 20% | 100% | 78% |
| Well differentiated LPS | 0 | N/A | N/A | 6 | 0% | N/A | N/A |
| Dedifferentiated LPS | 28 | 1 | 0 | 52 | 56% | 100% | 93% |
| Myxoid LPS | 0 | N/A | N/A | 55 | 0% | N/A | N/A |
| Pleomorphic LPS | 11 | N/A | N/A | 27 | 41% | 100% | 63% |
| Undifferentiated Pleomorphic Sarcoma | 32 | N/A | N/A | 87 | 37% | 96% | 55% |
*: Total Mutant % = (ATRX loss + DAXX loss + Both loss)/Total Tumors; **: 0 indicates that at least one study assessed for the gene, but gene loss was not observed in any samples; ***: N/A indicates that the data was not available or the study did not assess for the gene of interest. ATRX: α-thalassemia/mental retardation syndrome X-linked (ATRX) gene. DAXX: death-domain associated protein gene.