Table 1 Patient characteristics and transplantation procedure.

Item	Specification	At diagnosis/prior to HSCT
Item	Specification		N	%
Patients			65	100
Gender	Male		34	52
	Female		31	48
Age at diagnosis of MDS	Years, median(range)	12.8 (4.4–18.6)
GATA2 Type of mutation	Truncating		43	66
	Missense		14	22
	Non-Coding Intron 4		4	6
	Synonymous		3	5
	Whole gene deletion		1	2
MDS subtype at diagnosis	RCC		36	55
	MDS-EB		22	34
	MDS-EBt/ MDR-AML		6 /1	11
Karyotype	Monosomy 7		44	68
	Der (1;7)		4	6
	Trisomy 8		4	6
	Normal^a		12	19
	Other		1	1
Non-Hematological features	Any		40	71
	Immunedeficiency^b		24
	Lymphedema/ hydrocele		13
	Deafness/hearing impairment		8
	Urogenital malformations		10
	Neurocognitive/ behavioral problems		10
Highest MDS subtype
(prior to HSCT)	RCC		27	42
	MDS-EB		23	35
	MDS-EBt/ MDR-AML		10/5	23
	At HSCT
Age at HSCT	Years, median (range)	13.5 (4.6-19.9)
Interval MDS to HSCT	Months, median (range)	5.6 (1.4 – 67)
Therapy prior to 1st HSCT	No therapy		55	85
	AML-type		5	8
	other		5	8
BM blasts at HSCT	< 5%		34	56
	5–19%		19	31
	≥ 20%		8	13
	No data		4
	HSCT procedure
Donor	MSD		17	26
	MUD (10/10)/(9/10)		24/6	46
	UD (6/6)/(5/6)/(8/10)^c/ incomplete typing		1/2/6/1	15
	MMFD		8	12
Stem cell source	BM		37	57
	PBSC		19	29
	PBSC (T-cell depleted)		8	12
	CB		1	2
Conditioning regimen	Busulfan- based		35	54
	Treosulfan-based		21	32
	TBI-based		5	8
	Other		4	6
GvHD prophylaxis	MSD (17)	CSA	7
		CSA/MTX	7
		ATG/CSA/MTX	3
	(M)UD (40)	ATG^d/CSA/MTX^e	36
		ATG/CSA	2
		ATG/tacrolimus	1
		CSA/MTX	1
	MMFD (8)	ATG	6
		ATG/MMF	1
		Muromonab (OKT3)	1

HSCT Hematopoietic stem cell transplantation, MDS Myelodysplastic syndrome, RCC Refractory cytopenia of childhood, MDS-EB MDS with excess blasts, MDS-EBt MDS with excess blasts in transformation, MDR-AML MDS-related acute myeloid leukemia, MSD matched sibling donor, MUD matched unrelated donor, UD unrelated donor, MMFD mismatched family donor, BM bone marrow, PBSC peripheral blood stem cells, CB cord blood; TBI total body irradiation, ATG/ALG anti-thymocyte/lymphocyte globuline, CSA cyclosporine, MTX methotrexate, MMF Mycophenolate mofetil.
^aIncluding two patients without sufficient metaphases and exclusion of monosomy 7 and trisomy 8 by fluorescence in situ hybridization (FISH).
^bDefined as frequent infections and/or laboratory evidence of immune deficiency.
^cIncluding one patient with an 8/10 HLA matched sibling donor.
^dIncluding one patient with alemtuzumab instead of ATG as serotherapy.
^eIncluding two patients with MMF instead of MTX.

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