Table 2.
Cases of IKZF1plus identified by array CGH. Cases negative for risk stratifying markers BCR-ABL1, ETV6-RUNX1, AFF1-KMT2A, TCF3-HLF, and hypodiploidy were analyzed by array CGH. The IKZF1plus deletion profile was identified in a total of twelve cases. The mandatory deletion of IKZF1 was accompanied by deletions on chromosome 9 in all cases, interstitial deletions between P2RY8 and CRLF2 were not observed. At the end of induction therapy, nine cases had a positive MRD result and would therefore qualify for the high-risk treatment group of the AIEOP-BFM ALL 2017 trial. MRD pos, patients with a positive/measurable MRD signal including low positive, not quantifiable signal (based on the EuroMRD Guidelines); TP1, conclusion of induction therapy on day 33
| Patient data | IKZF1plus profile | Risk stratification | |||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Case no. | Sex | Age at diagnosis | Immunophenotype | IKZF1 | CDKN2A | CDKN2B | PAX5 | P2RY8-CRLF2 | ERG | MRD (TP1) | Suggested treatment group |
| 32 | m | 17.0 | common-ALL (B-II) | Deletion (7p12.2) | Normal | Normal | Deletion (9p13.2) | Normal | Normal | pos | High risk |
| 33 | m | 13.1 | common-ALL (B-II) | Deletion (7p14.3p12.2) | Deletion (9p21.3) | Deletion (9p13.2) | Normal | Normal | neg | Standard risk | |
| 34 | m | 5.6 | common-ALL (B-II) | Deletion (7p12.2) | Deletion (9p21.3) | Deletion (9p13.2) | Normal | Normal | pos | High risk | |
| 35 | f | 2.5 | pre-B-ALL (B-III) | Deletion (7p13p12.1) | Deletion (9p24.3p13.2) | Normal | Normal | neg | Standard risk | ||
| 36 | m | 3.2 | common-ALL (B-II) | Deletion (7p12.2) | Deletion (9p24.3p13.2) | Normal | Normal | pos | High risk | ||
| 37 | f | 11.6 | common-ALL (B-II) | Deletion (7p12.2) | Deletion (9p22.1p13.1) | Normal | Normal | pos | High risk | ||
| 38 | m | 3.6 | pre-B-ALL (B-III) | Deletion (7p12.2) | Deletion (9p24.3p13.1) | Normal | Gain | pos | High risk | ||
| 39 | m | 3.9 | common-ALL (B-II) | Deletion (7p12.2) | Deletion (9p24.3p13.2) | Normal | Normal | pos | High risk | ||
| 40 | f | 12.2 | common-ALL (B-II) | Deletion (7p12.2) | Deletion (9p21.3p13.2) | Normal | Normal | Normal | pos | High risk | |
| 41 | m | 15.2 | common-ALL (B-II) | Deletion (7p12.2) | Normal | Normal | Deletion (9p13.2) | Normal | Normal | pos | High risk |
| 42 | m | 7.4 | common-ALL (B-II) | Deletion (7p12.2) | Deletion (9p21.3p21.2) | Gain | Gain | Gain | pos | High risk | |
| 43 | f | 9.9 | pre-B-ALL (B-III) | Deletion (7p22.3q36.3) | Deletion (9p21.3p13.1) | Gain | Gain | neg | Standard risk | ||