Table 3.
Clinicopathologic features of iAMP21 and ETV6-RUNX1 fusion positive B-ALL cases
| Cases | Age(Yr)/Gender | WBC Count (109/L) |
BM Blast % |
Additional Abnormalities | Outcome | Treatment | References |
|---|---|---|---|---|---|---|---|
| 1 | 2/M | 9.1 | NAa | Karyotype: 46,XY. FISH: ETV6-RUNX1 (4–5 copies) fusion in 80% cells | EFSb: 22 months. OSc: 34 months |
ALL-IC-BFM | Case #4 Haltrich, 2013 [12] |
| 2 | 10/M | NA | NA | RUNX1 amplification with ETV6-RUNX1 fusion in 5.5% cells and without ETV6-RUNX1 fusion in 88.5% cells | NA | NA | Case #4 Ma, 2001 [14] |
| 3 | 2/F | 78 | 98 | ETV6-RUNX1 fusion with RUNX1 amplification in 56% cells and without RUNX1 amplification in 23% cells. Karyotype: 46,XX | NA | NA | Case #23 Mikhail, 2002 [13] |
| 4 | 7/M | 34.2 | NA | At diagnosis: ETV6 deletion with ETV6-RUNX1 fusion. Normal Karyotype. At relapse: RUNX1 x 4-5, ETV6 deletion, ETV6-RUNX1 fusion. Karyotype: 46,XY,der(21)add(21)(q22)[25] |
EFS: 28 months | ALL-BFM’95/ALL-REZ-BFM 2002 | Case #1 Haltrich, 2013 [12] |
| 5 | 11/M | 0.7 | NA | Karyotype: 46,XY,add(21)(q22) | NA | NA | Case #528 Harrison, 2014 [7] |
| 6 | 13/M | NA | NA | Karyotype: 44,XY,del(1)(p33),-4,i(9)(q10),-17, t(19;?)(q13.3;?),dup(21)(q?),+1 ~ 2mar[cp16] |
NA | NA | Case #530 Harrison, 2014 [7] |
| 7 | 18/M | 2.0 | 54 | At diagnosis: ETV6-RUNX1 fusion. No Karyotype. At relapse: RUNX1 amplification (5 copies)/ETV6-RUNX1 in 27% cells. Complex karyotype. |
OS: 26 months | Chemo ASCTd |
Current Study |
a NA not available
b EFS event-free survival
c OS overall survival
d ASCT allogeneic stem cell transplantation