Table 1.RASA4 TSS2 methylation and clinical or hematological parameters in JMML.
| Total cohort | RASA4 TSS2 Methylation Tertile | P value | |||
|---|---|---|---|---|---|
| Lowest | Middle | Highest | |||
| N | 125 | 41 | 42 | 42 | |
| Age [years] | 1.4 (0.1–12.2) | 0.6 (0.1–6.4) | 1.3 (0.1–12.2) | 3.5 (0.7–8.8) | < 0.01 |
| Sex | NS | ||||
| Male | 80 (64%) | 22 (54%) | 27 (64%) | 31 (74%) | |
| Female | 45 (36%) | 19 (46%) | 15 (36%) | 11 (26%) | |
| Leukocytes [109/l] | 31 (3–217) | 32 (3–162) | 35 (9–144) | 29 (4–217) | NS |
| Missing | 2 | ||||
| Platelets [109/l] | 67 (5–530) | 85 (15–530) | 70 (5–271) | 48 (10–234) | 0.05 |
| Missing | 2 | 1 | 1 | ||
| Hemoglobin [g/dl] | 9.3 (3.4–13.5) | 9.0 (6.0–13.5) | 9.2 (4.1–11.7) | 9.4 (3.4–11.8) | NS |
| Missing | 1 | 1 | |||
| Myeloblasts (PB) [%] | 2 (0–18) | 2 (0–16) | 1 (0–12) | 2 (0–18) | NS |
| Myeloblasts (BM) [%] | 6 (0–28) | 4 (0–20) | 6 (0–20) | 6 (0–28) | 0.05 |
| Missing | 6 | 5 | 1 | ||
| Monocytes (PB) [%] | 18 (0–55) | 20 (0–45) | 17 (2–46) | 17 (4–55) | NS |
| Monocytes (BM) [%] | 6 (0–34) | 5 (0–17) | 6 (0–22) | 6 (0–34) | NS |
| Missing | 6 | 5 | 1 | ||
| Spleen size at diagnosis [cm below the costal margin] | 5 (0–15) | 5 (0–15) | 5 (0–15) | 5 (0–15) | NS |
| Missing | 3 | 3 | |||
| Hemoglobin F (age-adjusted) | 0.01 | ||||
| Normal | 28 (29%) | 15 (47%) | 8 (26%) | 5 (15%) | |
| Elevated | 69 (71%) | 17 (53%) | 23 (74%) | 29 (85%) | |
| Missing | 28 | 9 | 11 | 8 | |
| N | 125 | 41 | 42 | 42 | |
| Karyotype | NS | ||||
| Normal | 83 (70%) |
29 (76%) |
32 (76%) |
22 (56%) |
|
| Monosomy 7 | (21%) | (16%) | (14%) | (33%) | |
| Other Aberrant | 11 (9%) | 3 (9%) | 4 (10%) | 4 (10%) | |
| Missing | 6 | 3 | 3 | ||
| DNA Source | NS | ||||
| PB | 56 | 17 (42%) | 22 (52%) | 17 (41%) | |
| BM | 69 | 24 (58%) |
20 (48%) |
25 (59%) |
|
| Mutation | < 0.01 | ||||
| NF1 | 17 (14%) |
7 (18%) |
3 (8%) |
7 (18%) |
NS |
| PTPN11 somatic |
46 (38%) |
3 (8%) | 19 (48%) |
24 (60%) |
< 0.01 |
| KRAS Somatic |
13 (11%) |
5 (13%) |
6 (15%) |
2 (5%) |
NS |
| NRAS Somatic |
16 (13%) | 9 (23%) | 3 (8%) | 4 (10%) |
0.10 |
| CBL | 13 (11%) |
8 (20%) |
4 (10%) | 1 (3%) | 0.04 |
| No mutation | 15 (13%) | 8 (20%) | 5 (13%) | 2 (5%) | NS |
| Missing | 5 | 1 | 2 | 2 | |
| Survival | NS | ||||
| Alive | 77 (62%) |
29 (71%) | 26 (62%) | 22 (52%) | |
| Dead | 48 (38%) |
12 (29%) | 16 (38%) | 20 (48%) | |
| Alive after HSCT | NS | ||||
| Yes | 64 (64%) |
23 (70%) | 20 (59%) | 21 (64%) | |
| No | 36 (36%) | 10 (30%) |
14 (41%) |
12 (36%) |
|
| No HSCT | 25 | ||||
| Relapse after HSCT | 0.01 | ||||
| Yes | 30 (30%) | 5 (15%) | 9 (27%) | 16 (49%) | |
| No | 70 (70%) | 28 (85%) | 25 (74%) | 17 (52%) | |
| No HSCT | 25 | ||||
P values were calculated using chi-square test for categorical and Mann-Whitney test (2 subgroups) or Kruskal-Wallis test (more subgroups) for continuous variables. P values > 0.1 are reported as not significant. Abbreviations: NS, not significant; PB, peripheral blood; BM, bone marrow; HSCT, hematopoietic stem cell transplantation.