The role of genetic factors in pediatric myelodysplastic syndromes with different outcomes

BMC Pediatrics

Table 2 Clinical characteristics and treatment outcomes of 13 patients with gene mutation

ID	subtypes	Sex/ Age(y)	TD at diagnosis	BM karyotype	Types of mutations	Treatment and disease evolution	Outcomes
N1	RCC	M/6	No	Normal	Somatic	CsA→SD	Survivlal
N2	RCC	F/5	No	Normal	Germline + somatic	Watch&wait→PD→CsA+HSCT→HI	Survival
N3	RCC	F/10	Yes	Del20q^a	Germline + somatic	Watch&wait→HI	Survival
N4	RCC	M/0.58	No	Normal	Germline + somatic	CsA→SD	Survival
N5	RCC	M/9	No	Normal	Somatic	Watch & wait→SD	Survival
N6	RCC	M/0.3	Yes	45,XY,-7^b	Somatic	HSCT→HI	Survival
N7	RCC	F/12	Yes	Normal	Somatic	HSCT→HI	Survival
N8	RCC	M/10	No	Normal	Somatic	CsA→HI	Survival
N9	MDS-EB	F/1	Yes	45,XX,-7^b	Somatic	HSCT→HI	Survival
N10	MDS-EB	M/13	Yes	45,XY,-7^a	Germline + somatic	PD→HSCT	Death
N11	MDS-EB	M/12	Yes	45,X,-Y^a	Germline	HSCT→HI	Survival
N12	MDS-EB	F/10	Yes	45,XX,-7^a	Germline + somatic	Support therapy (Give up HSCT)→PD	Death
N13	MDS-EB-t	M/2	Yes	Complex karyotype^a	Somatic	Support therapy (Give up HSCT)→PD	Death

Abbreviations: F, female; M, male; TD, transfusion dependency; BM, bone marrow; y, years; m, months; SD, stable disease; PD, progressive disease; HI, hematological improvement; CsA, cyclosporine A; HSCT, hematopoietic stem cell transplantation; RCC, refractory cytopenia of childhood; MDS-EB, myelodysplastic syndromes with excess of blasts; MDS-EB-t, MDS-EB in transformation. a The chromosomal variant was verified as a somatic variant; b The chromosomal variant was verified as a germline variant

ISSN: 1471-2431