Table 1.

Prevalence of GATA-related myeloid neoplasia.

Year reported	Author	PMID	Screening cohort	No. of GATA2-mutated cases	No. of cases with myeloid neoplasia	Age at Dx of myeloid neoplasia; median (range), years	Monosomy 7 &der(1;7), %	Trisomy 8, %
2011	Hahn7	21892162	Familial MDS/AML	28	15	10–53 (20.5)	50	10
2011	Ostergaard6	21892158	Emberger syndrome	14	8	9–53 (12)	75	0
2012	Bodor*47	22271902	Familial MDS	5	2	18–23 (20.5)	2/2	0
2012	Kazenwadel39	22147895	MDS/AML	10	9	10–33 (16)	44	11
2012	Holme45	22533337	Familial MDS	4	4	12–48 (20)	25	0
2013	Pasquet9	23223431	Chronic neutropenia	14	10	6–35 (15)	70	0
2013	Hsu48	23502222	MonoMAC	32	20	3–78 (21.5)	n.a.	n.a.
2014	Spinner12	24227816	GATA2 deficiency	57	42	0.4–78 (19)	21	24
2014	West50	24077845	GATA2 deficiency	48	42	12–78 (35.5)	20	22.5
2014	Dickinson41	24345756	GATA2 deficiency	30	11	4–40 (25)	18	18
2015	Mir*42	25619630	Myeloid neoplasms	5	3	7–38 (22.5)	0	0
2015	Ganapathi41	25359990	GATA2 deficiency	28	28	14–60 (30)	23	23
2015	Churpek69	26492932	Familial MDS	7	6	13–68 (16.5)	0	25
2015	Wang51	26022708	Pediatric MDS	6	5	n.a.	80	20
2015	Zhang52	25239263	Pediatric MDS	5	5	12–22 (16)	0	40
2016	Wlodarski8	26702063	Pediatric MDS	60	57	3–19 (12)	75	9
2016	Novakova43	27013649	Pediatric MDS	12	10	4.4–17 (14.5)	80	10
2017	Schlums49	28209719	GATA2 deficiency	13	5	7–60 (18)	n.a.	n.a.
Total/avg				378	282 (75%)	19.7 (12–35.5)	41%	15%

Dx = diagnosis; N.a. = data not available.

^*Not included in summary statistics for karyotypes due to low number of reported cases.