Test results at time of diagnosis
| Diagnostic test . | Tissue type . | Findings . |
|---|---|---|
| Flow cytometry | Peripheral blood | Population of immature cells (comprising ∼84% of viable cells): Positive for CD45 (dim), CD34, CD117, CD33, CD7, CD4 (subset dim), CD56 (small subset), CD123 (dim), CD36, CD38, CD41 (small subset with weak expression), CD61 (small subset with weak expression), CD71. Negative for myeloperoxidase, HLA-DR, CD13, CD15, CD16, CD14, CD64, CD65, CD11b, sCD3, CD2, CD5, CD8, CD10, CD19, and CD20. |
| FISH | Peripheral blood | Positive for 3 copies of RUNX1 in 88% of examined cells. Negative for RUNX1T1/RUNX1, KMT2A, PML/RARA or CBFB rearrangements, monosomy 5, monosomy 7, and trisomy 8. |
| Cytogenetics | Peripheral blood | 47,XY, + 21[20] |
| Lymphocytes | 46,XY[8] | |
| Skin fibroblasts | 46,XY[50] | |
| NGS panel | Peripheral blood | GATA1 (NM_002049) c.136_137insCCTCCACTGCCCCGAG (p.T52Lfs*21): 80.1% variant allele frequency. Copy number analysis: gain of RUNX1, ERG, U2AF1 (on 21q). |
| Diagnostic test . | Tissue type . | Findings . |
|---|---|---|
| Flow cytometry | Peripheral blood | Population of immature cells (comprising ∼84% of viable cells): Positive for CD45 (dim), CD34, CD117, CD33, CD7, CD4 (subset dim), CD56 (small subset), CD123 (dim), CD36, CD38, CD41 (small subset with weak expression), CD61 (small subset with weak expression), CD71. Negative for myeloperoxidase, HLA-DR, CD13, CD15, CD16, CD14, CD64, CD65, CD11b, sCD3, CD2, CD5, CD8, CD10, CD19, and CD20. |
| FISH | Peripheral blood | Positive for 3 copies of RUNX1 in 88% of examined cells. Negative for RUNX1T1/RUNX1, KMT2A, PML/RARA or CBFB rearrangements, monosomy 5, monosomy 7, and trisomy 8. |
| Cytogenetics | Peripheral blood | 47,XY, + 21[20] |
| Lymphocytes | 46,XY[8] | |
| Skin fibroblasts | 46,XY[50] | |
| NGS panel | Peripheral blood | GATA1 (NM_002049) c.136_137insCCTCCACTGCCCCGAG (p.T52Lfs*21): 80.1% variant allele frequency. Copy number analysis: gain of RUNX1, ERG, U2AF1 (on 21q). |