Table 1 Characteristics of primary MDS... | American Society of Hematology

Table 1

Characteristics of primary MDS with GATA2 deficiency in a consecutive population-based cohort

	Parameter	GATA2^mut (N = 28)	GATA2^WT (N = 398)	P value
Mutations	Total/distinct	28/24	0
Age	Median (range), years	12.3 (5.2-17.4)	10.3 (0.2-18.1)	<.05
Sex	Males, N = 248	15 (54%)	233 (58%)	n.s.
	Females, N = 178	13 (46%)	165 (42%)
Subtype	RCC, N = 341	15 (54%)	326 (82%)	<.01
	RAEB/RAEB-t, N = 85	13 (46%)	72 (18%)
Karyotype*	Monosomy 7,† N = 54	19 (70%)	35 (11%)	<.01
	Structural complex, N = 9	0 (0%)	9 (3%)
	Other, N = 30	1 (4%)‡	29 (9%)
	Normal, N = 253	7 (26%)	246 (77%)
Familial disease	Index patients (%)	8 (29%)	8 (2%)	<.01

	Parameter	GATA2^mut (N = 28)	GATA2^WT (N = 398)	P value
Mutations	Total/distinct	28/24	0
Age	Median (range), years	12.3 (5.2-17.4)	10.3 (0.2-18.1)	<.05
Sex	Males, N = 248	15 (54%)	233 (58%)	n.s.
	Females, N = 178	13 (46%)	165 (42%)
Subtype	RCC, N = 341	15 (54%)	326 (82%)	<.01
	RAEB/RAEB-t, N = 85	13 (46%)	72 (18%)
Karyotype*	Monosomy 7,† N = 54	19 (70%)	35 (11%)	<.01
	Structural complex, N = 9	0 (0%)	9 (3%)
	Other, N = 30	1 (4%)‡	29 (9%)
	Normal, N = 253	7 (26%)	246 (77%)
Familial disease	Index patients (%)	8 (29%)	8 (2%)	<.01

n.s., not significant.

Karyotypes at diagnosis were informative in 346 of 426 patients (GATA2 mutated: n = 27; wild type: n = 319).

Includes monosomy 7 with 1 or 2 additional aberrations.

Includes 1 patient with der(1;7)(q10;p10) and trisomy 8.