Analysis of immunophenotype, VDJ assembly, and RAS mutation in CEBP/IGH translocation cases
| Patient no. . | Immunophenotype* . | VDJ assembly . | RAS mutation . | |||
|---|---|---|---|---|---|---|
| Positive . | Negative . | VDJ status . | Homology of VH, % . | NRAS . | KRAS2 . | |
| A1 | CD10, CD19, CD3, HLA-DR | CD13, CD14, CD33 | — | — | — | — |
| A2 | CD10, CD19, CD2, CD7, TdT, HLA-DR | CD33, CD13, CD20 | Only germline detected | WT | WT | |
| A3 | CD19, CD34, TdT, HLA-DR | CD10, CD14, slgM, clgM | — | — | — | — |
| A4 | CD10, CD19, CD22, TdT, IgM, HLA-DR | CD13, CD33, CD34 | — | — | — | — |
| A5 | — | — | V3-23D2-21J6, D5-12J6 | 100.0, — | WT | Codon 13 |
| A6 | CD10, CD19, HLA-DR | CD2, CD7, slgM | V2-5D2-15J6 | 99.8 | WT | WT |
| A7 | CD45, CD19, CD22, CD24, HLA-DR, CD34, TdT, cCD79a | CD2, CD3, CD4, CD5, CD7, CD8, CD20, CD10, CD14, CD13, CD15, CD33, CD41, CD65, CD117 | — | — | — | — |
| A8 | CD10, CD19, TdT, HLA-DR | CD3, CD5, CD7, CD13, CD33, CD34 | D6-6J6 | — | Codon 12 | WT |
| A9 | CD19, CD10, CD22, CD24, HLA-DR, CD34, TdT, CD79a | MPO, CD13, CD14, CD15, CD33, CD65 clgM, cCD3, CD7 | V5-51D3-22J4 | 100.0 | WT | WT |
| G1 | HLA-DR, CD34, CD10, CD19, CD22, CD2 | CD20, slgM, clgM, slgk, slgl, CD7, CD5, CD1a, CD4, CD8, CD3, cCD3, CD56, CD13, CD33, CD14, CD15, CD65w, CD36, CD42, CD61 | V3-43D†J1 | 98.2 | WT | WT |
| D1 | — | — | V4-34D3-16J5 | 100.0 | WT | WT |
| D2 | CD10, CD19, HLA-DR, CD22, CD34, CD45, TdT | CD2, CD7, CD13, CD33 | V7-4.1D3-9J6 | 100.0 | WT | WT |
| D4 | CD10, CD19, CD22, CD79a, clgM, CD2, CD7, HLA-DR, TdT, CD34 | CD3, CD13, CD14, CD15, CD33, CD117 | — | — | — | — |
| D6 | CD19, CD34, CD10, CD22, HLA-DR, TdT, cCD79a, clgM | CD45, CD20, slgk, slgl | V4-39D3-22J6 | 99.0 | WT | WT |
| D7 | CD10, CD19, CD24, TdT, HLA-DR | CD11c, CD3, CD4, CD7, CD8, CD33 | D6-19J4 | — | WT | WT |
| D8 | CD10, CD19, CD34, HLA-DR, CD13, CD33 | CD2, CD5, CD7, CD8, CD14, CD15, CD36, CD56, CD61, CD64 | D2-2J6 | — | WT | WT |
| D9 | CD10 | — | — | — | WT | WT |
| D10 | CD19, CD10, HLA-DR, CD135, TdT (96%), CD79a (25%), CD13 (53%), CD235a (52%), CD90 (48%) | — | — | — | — | — |
| E1 | CD10, CD19, CD34, CD38 | CD5, CD7, CD13, CD33, CD117 | — | — | — | — |
| E2 | CD19, CD10, TdT, cCD3 | V7-4.1D6-19J6, V4-4D6-19J6 | 100.0, 100.0 | WT | WT | |
| E3 | CD19, CD24, Tdt, CD10 | CD5, CD7, CD2, sCD3, CD13, CD33 | V1-46D3-22J3, V3-21D3-16J4 | 100.0, 100.0 | Codon 61 | WT |
| B1 | CD19, CD20, CD22, CD45, CD10, CD34, TdT | CD2, CD3, CD5, CD4, CD8, CD23, CD37, CD7, CD13, CD33, CD14, CD11b, CD11c, CD61, clgM | V3-02,1PD3-3J6 | 99.0 | Codon 13 | WT |
| B2 | CD10, CD19, CD22, HLA-DR, CD45, CD34 | CD20, CD5, CD3, CD7, CD33, CD13, CD41a, CD14 | V3-23D3-22J4 | 100.0 | WT | WT |
| B3 | CD19, CD34, CD10, HLA-DR, TdT | CD3, CD4, CD7, CD13, CD14, CD33 | — | — | — | — |
| Patient no. . | Immunophenotype* . | VDJ assembly . | RAS mutation . | |||
|---|---|---|---|---|---|---|
| Positive . | Negative . | VDJ status . | Homology of VH, % . | NRAS . | KRAS2 . | |
| A1 | CD10, CD19, CD3, HLA-DR | CD13, CD14, CD33 | — | — | — | — |
| A2 | CD10, CD19, CD2, CD7, TdT, HLA-DR | CD33, CD13, CD20 | Only germline detected | WT | WT | |
| A3 | CD19, CD34, TdT, HLA-DR | CD10, CD14, slgM, clgM | — | — | — | — |
| A4 | CD10, CD19, CD22, TdT, IgM, HLA-DR | CD13, CD33, CD34 | — | — | — | — |
| A5 | — | — | V3-23D2-21J6, D5-12J6 | 100.0, — | WT | Codon 13 |
| A6 | CD10, CD19, HLA-DR | CD2, CD7, slgM | V2-5D2-15J6 | 99.8 | WT | WT |
| A7 | CD45, CD19, CD22, CD24, HLA-DR, CD34, TdT, cCD79a | CD2, CD3, CD4, CD5, CD7, CD8, CD20, CD10, CD14, CD13, CD15, CD33, CD41, CD65, CD117 | — | — | — | — |
| A8 | CD10, CD19, TdT, HLA-DR | CD3, CD5, CD7, CD13, CD33, CD34 | D6-6J6 | — | Codon 12 | WT |
| A9 | CD19, CD10, CD22, CD24, HLA-DR, CD34, TdT, CD79a | MPO, CD13, CD14, CD15, CD33, CD65 clgM, cCD3, CD7 | V5-51D3-22J4 | 100.0 | WT | WT |
| G1 | HLA-DR, CD34, CD10, CD19, CD22, CD2 | CD20, slgM, clgM, slgk, slgl, CD7, CD5, CD1a, CD4, CD8, CD3, cCD3, CD56, CD13, CD33, CD14, CD15, CD65w, CD36, CD42, CD61 | V3-43D†J1 | 98.2 | WT | WT |
| D1 | — | — | V4-34D3-16J5 | 100.0 | WT | WT |
| D2 | CD10, CD19, HLA-DR, CD22, CD34, CD45, TdT | CD2, CD7, CD13, CD33 | V7-4.1D3-9J6 | 100.0 | WT | WT |
| D4 | CD10, CD19, CD22, CD79a, clgM, CD2, CD7, HLA-DR, TdT, CD34 | CD3, CD13, CD14, CD15, CD33, CD117 | — | — | — | — |
| D6 | CD19, CD34, CD10, CD22, HLA-DR, TdT, cCD79a, clgM | CD45, CD20, slgk, slgl | V4-39D3-22J6 | 99.0 | WT | WT |
| D7 | CD10, CD19, CD24, TdT, HLA-DR | CD11c, CD3, CD4, CD7, CD8, CD33 | D6-19J4 | — | WT | WT |
| D8 | CD10, CD19, CD34, HLA-DR, CD13, CD33 | CD2, CD5, CD7, CD8, CD14, CD15, CD36, CD56, CD61, CD64 | D2-2J6 | — | WT | WT |
| D9 | CD10 | — | — | — | WT | WT |
| D10 | CD19, CD10, HLA-DR, CD135, TdT (96%), CD79a (25%), CD13 (53%), CD235a (52%), CD90 (48%) | — | — | — | — | — |
| E1 | CD10, CD19, CD34, CD38 | CD5, CD7, CD13, CD33, CD117 | — | — | — | — |
| E2 | CD19, CD10, TdT, cCD3 | V7-4.1D6-19J6, V4-4D6-19J6 | 100.0, 100.0 | WT | WT | |
| E3 | CD19, CD24, Tdt, CD10 | CD5, CD7, CD2, sCD3, CD13, CD33 | V1-46D3-22J3, V3-21D3-16J4 | 100.0, 100.0 | Codon 61 | WT |
| B1 | CD19, CD20, CD22, CD45, CD10, CD34, TdT | CD2, CD3, CD5, CD4, CD8, CD23, CD37, CD7, CD13, CD33, CD14, CD11b, CD11c, CD61, clgM | V3-02,1PD3-3J6 | 99.0 | Codon 13 | WT |
| B2 | CD10, CD19, CD22, HLA-DR, CD45, CD34 | CD20, CD5, CD3, CD7, CD33, CD13, CD41a, CD14 | V3-23D3-22J4 | 100.0 | WT | WT |
| B3 | CD19, CD34, CD10, HLA-DR, TdT | CD3, CD4, CD7, CD13, CD14, CD33 | — | — | — | — |
WT indicates wild type; and —, data not available or not done, due to lack of suitable clinical material.
Immunophenotypic data were obtained at diagnosis using variable antibody panels as indicated. Patient D8 coexpressed CD13 and CD33; interestingly, this patient only exhibited DJ rather than VDJ rearrangement. Detailed immunophenotyping was performed in patient D10; all blasts were CD19, CD10, and TdT positive. Coexpression of CD13 and CD235a was seen in about 50% of cells, but these did not express either myeloperoxidase or CD33. Neither immunophenotypic nor mutational data were available from patients D3, D5, and E4.
D segment was not identified by BLAST research.