Frequency and Functional Characterization of RUNX1 Germline Variants in Myeloid Neoplasms
Table 1
Baseline characteristics of patients stratified according to RUNX1 variants.
Variable
No
Yes
hVAF-RUNX1
Test
No.
508
42
40
Diagnosis at baseline (%)
<0.001
MDS
155 (30.5)
19 (45.2)
14 (35.0)
AML
125 (24.6)
13 (31.0)
12 (30.0)
CCUS
105 (20.7)
5 (11.9)
6 (15.0)
CMML
32 (6.3)
5 (11.9)
8 (20.0)
ICUS
91 (17.9)
0 (0.0)
0 (0.0)
Age at inclusion (mean (SD))
69.0 (12.4)
71.8 (10.7)
71.9 (14.1)
0.189
Sex = male (%)
326 (64.7)
22 (52.4)
31 (77.5)
0.059
Platelet count at baseline [109/L] (median [IQR])
116 [68, 194]
102 [49, 163]
73.50 [48, 103]
<0.001
Nonnorm
Hemoglobin at baseline (mmol/L) (median [IQR])
6.70 [5.70, 7.90]
6.45 [5.70, 7.22]
6.30 [5.47, 7.82]
0.423
Nonnorm
Leukocyte count at baseline (109/L) (median [IQR])
4.60 [2.76, 7.84]
3.60 [2.33, 8.80]
4.66 [2.55, 9.45]
0.881
Nonnorm
LDH at baseline (U/L) (median [IQR])
210 [178, 260]
247 [177, 389]
227.00 [178, 281]
0.197
Nonnorm
Blast count, bone marrow (baseline) (median [IQR])
2.00 [0.00, 25.00]
10.00 [5.00, 41.00]
6.00 [1.25, 29.50]
0.001
Nonnorm
Baseline characteristics of patients in the study are divided into three groups: no RUNX1 variant, RUNX1 variant with a VAF < 30%, and RUNX1 variant with a VAF>30%. VAF: variant allele frequency; hVAF-RUNX1: RUNX1 variant with persistent VAF greater than 30%; MDS: myelodysplastic syndrome; AML: acute myelogenous leukemia; CCUS: clonal cytopenia of unknown significance; ICUS: idiopathic cytopenia of unknown significance; CMML: chronic myelomonocytic leukemia; SD: standard deviation; IQR: interquartile range.
