CLINICAL NEWS
TABLE 2.
Characteristics of Primary MDS with GATA2 Deficiency
GATA2
GATA2
mut
WT
Mutations
Total/Distinct
28/24
0
Age
Median (range)
12.3 years (5.2-17.4)
10.3 years (0.2-18.1)
Male (n=248)
15 (54%)
233 (58%)
Female (n=178)
13 (46%)
165 (42%)
RCC (n-341)
15 (54%)
326 (82%)
RAEB/RAEB-t (n=85)
13 (46%)
72 (18%)
Monosomy 7 (n=54)
19 (70%)
35 (11%)
Structural complex
(n=9)
0 (0%)
9 (3%)
Sex
Subtype
Karyotype
Other (n=30)
1 (4%)
29 (9%)
Normal (n=253)
7 (26%)
246 (77%)
p Value
<0.05
Not significant
<0.01
<0.01
RAEB = refractory anemia with excess blasts; RCC = refractory cytopenia of childhood
evidence-based clinical care.
“In this study, we aimed to
assess the frequency of germline
GATA2 mutations that underlie
pediatric MDS, and to define
clinical characteristics, therapeutic
response, and prognostic con-
28 patients (7%) with primary
MDS, while no mutations were
found among the 82 patients with
secondary MDS (TABLE 2). Taking
into accoun BF