Germline patient demographics and molecular characteristics
| Patient ID . | Age at diagnosis, y . | Germline mutation . | Acquired mutation* . | Additional mutation† . | Familial AML history . | CEBPA mutation . |
|---|---|---|---|---|---|---|
| 98A-751 | 28 | 338delC | 1080insGAA | None | Yes | CEBPAdm |
| 07/04-268 (ULM_10) | 25 | 307delG | 1122_1123ins1075_1225 | KRAS, WT1 | Yes | CEBPAdm |
| BioID 769 | 51 | 1096T>C | 478_485del | None | No | CEBPAdm |
| 98A-543 | 33 | 1164G>A | None | FLT3TKD, NPM1 | No | CEBPAsm |
| 07/04-48 (ULM_20) | 59 | 1036G>T | 1086insAAG | None | No | CEBPAdm |
| Patient ID . | Age at diagnosis, y . | Germline mutation . | Acquired mutation* . | Additional mutation† . | Familial AML history . | CEBPA mutation . |
|---|---|---|---|---|---|---|
| 98A-751 | 28 | 338delC | 1080insGAA | None | Yes | CEBPAdm |
| 07/04-268 (ULM_10) | 25 | 307delG | 1122_1123ins1075_1225 | KRAS, WT1 | Yes | CEBPAdm |
| BioID 769 | 51 | 1096T>C | 478_485del | None | No | CEBPAdm |
| 98A-543 | 33 | 1164G>A | None | FLT3TKD, NPM1 | No | CEBPAsm |
| 07/04-48 (ULM_20) | 59 | 1036G>T | 1086insAAG | None | No | CEBPAdm |
Characteristics of 5 of 71 (7%) CEBPA mutant AML patients who carried CEBPA germline mutations. CBL indicates Casitas B-lineage lymphoma; KRAS, Kirsten Rat sarcoma; NRAS, neuroblastoma Rat sarcoma; RUNX1, runt-related transcription factor 1; and WT1, Wilms tumor 1
Patients 98A-751, 07/04-268 (ULM_10), 98A-543, and 07/04-48 (ULM_20) were screened for FLT3ITD, FLT3TKD, NPM1, NRAS, KRAS, WT1, RUNX1, and CBL mutations; patient BioID 769 was analyzed for FLT3ITD, FLT3TKD, and NPM1 mutations.