Table 2.
Genotype–phenotype correlations in MF patients
| No. of cases | A/A | A/G + G/G | P [O.R., 95% C.I.] | |
|---|---|---|---|---|
| Disease type | ||||
| PMF, n (%) | 45 | 31 (68.9) | 14 (31.1) |
P = 0.0008 vs. sMF [6.23; 2.04–19.32] |
| Pre-PMF, n (%) | 12 | 11 (91.7) | 1 (8.3) |
P = 0.0002 vs. sMF [31.17; 3.29–295.35] P = 0.07 vs. overtPMF |
| Overt-PMF, n (%) | 33 | 20 (60.6) | 13 (39.4) |
P = 0.011 vs. sMF [4.36; 1.36–13.95] |
| sMF n (%) | 23 | 6 (26.1) | 17 (73.9) |
P = 0.022 vs. CTRL [3.07; 1.14–8.32] |
| Age | ||||
| Median (range), years | 68 | 69.0 (29–84) | 70.0 (30–86) | P = 0.61 |
| >65 years, n (%) | 46 | 25 (54.4) | 21 (45.6) | P = 0.99 |
| Gender | ||||
| Male, n (%) | 41 | 21 (51.2) | 20 (48.8) | P = 0.51 |
| Female, n (%) | 27 | 16 (59.3) | 11 (40.7) | |
| IPSS | ||||
| Low/intermediate-1, n (%) | 42 | 28 (66.7) | 14 (33.3) |
P = 0.0078 [4.29; 1.42–12.91] |
| Intermediate-2/high, n (%) | 22 | 7 (31.8) | 15 (68.2) | |
| Hemoglobin | ||||
| Median (range), g/L | 62 | 12.7 (5–15.9) | 11.7 (7.3–15.5) | P = 0.062 |
| <100 g/L, n (%) | 13 | 4 (30.8) | 9 (69.2) |
P = 0.036 [3.89; 1.04–14.41] |
| WBC | ||||
| Median (range), x109/L | 62 | 9.2 (3.9–57.8) | 12.1 (2.9–57.0) | P = 0.78 |
| <4 × 109/ L or >25 × 109/L, n (%) | 7 | 3 (42.9) | 4 (57.1%) | P = 0.44 |
| Platelets | ||||
| Median (range), ×109/L | 60 | 560 (99–1322) | 376 (69–984) | P = 0.10 |
| LDH | ||||
| Median (range), U/L | 59 | 622 (205–1620) | 751 (343–1580) | P = 0.22 |
| >Normal range, n (%) | 47 | 26 (55.3) | 21 (44.7) | P = 0.85 |
| Constitutional symptoms | ||||
| Yes, n (%) | 47 | 7 (41.8) | 10 (58.8) | P = 0.19 |
| No, n (%) | 17 | 28 (59.6) | 19 (40.4) | |
| Circulating blasts | ||||
| <1%, n (%) | 53 | 33 (62.3) | 20 (37.4) |
P = 0.014 [6.6; 1.27–34.23] |
| ≥1%, n (%) | 10 | 2 (20.0) | 8 (80.0) | |
| Grading of fibrosis | ||||
| 0–I, n (%) | 29 | 20 (69.0) | 9 (31.0) |
P = 0.048 [2.78; 0.99–7.43] |
| ≥II, n (%) | 36 | 16 (44.4) | 20 (55.6) | |
| Spleen (long. Ø by US) median (range), cm |
68 | 14.0 (7.5–30) | 17.0 (10–30) | P = 0.1 |
| JAK2V617F mutation | ||||
| Positive, n (%) | 40 | 21 (52.5) | 19 (47.5) | P = 0.44 |
| Negative, n (%) | 19 | 12 (63.2) | 7 (36.8) | |
| Major thrombotic events | ||||
| Yes, n (%) | 22 | 11 (50.0) | 11 (50.0) | P = 0.55 |
| No, n (%) | 45 | 26 (57.8) | 19 (42.2) | |
Statistically significant associations are highlighted in bold, and relative Odds ratio (O.R.) and 95% Confidence Interval (C.I.) are reported
Age, IPSS risk category, leukocytes, hemoglobin, platelets, presence of blasts, LDH constitutional symptoms and spleen size refer to the time of diagnosis. “No. of cases” (second column) refers to: (i) for non-continuous variables, the no. of patients presenting the indicated parameter (i.e., no. of JAK2V617 positive and negative patients); (ii) for continuous variables, the no. of patients evaluated for that parameter (i.e., age at the time of diagnosis).