Table 4. Clinical and hematological... | American Society of Hematology

Table 4.

Clinical and hematological characteristics of patients with SAMD9L and SAMD9 mutations

ID (UB)	Mutation	Sex/age	Family history	Hb, g/dL Plt, × 10⁹/L ANC, × 10⁹/L	BM	BM cytogenetic	Short TLM	GR	Immune deficiency	Neurological defect	Genitourinary abnormality	Other	Age at BMT	Outcome
195	SAMD9L*	M/8 mo	Consanguinity	6.5	Hypocellular dysplasia	45,XY, −7[7/15]	No	No	No	No	No	—	24 mo	Alive, 2 months after HSCT, GVHD
				5
				0.06
609	SAMD9L	F/13 mo	Yes (see Figure 3E)	<6	N/A	ND	ND	No	No	Nystagmus	No	—	—	Mild thrombocytopenia (33-y old)
				<2
				<1
612	SAMD9L	M/13 mo	Yes (see Figure 3E)	6	Hypocellular	45,XY, −7[16/28]	No	No	Transient Ig deficiency (IgG < 3 g)	Nystagmus	No	—	—	BM FISH −7[8%] (2-y old)
				10										Mild cytopenias (5-y old)
				0.25
194	SAMD9L	F/13 mo	Simplex	6	Hypocellular	45,XX, −7	No	No	No	No	No	—	25 mo	Spontaneous blood cell count improvement; relapse after vaccination; clonal progression with del6q; then HSCT
				17
				0.27
081	SAMD9L	M/13 mo	Uncle with Hodgkin disease	9.5	Hypocellular dysplasia	Normal, no −7 by FISH	ND	No	No	Hydrocephaly, arachnoid cyst on MRI	No	—	—	Complete regression of cytopenias (9-y old)
				3
				0.25
022	SAMD9L TERC	M/27 y	Father with transient thrombo-cytopenia. Grandfather died of AML	13	Hypocellular dysplasia	Del13q, then −7	Yes	No	Recurrent infection in infancy	No	No	Hepatitis, pulmonary fibrosis	33 y	RAEB1 with del13q and −7 (33-y old); CR after 1 cycle of azacytidine; HSCT; pulmonary fibrosis (37-y old)
				79
				1.68
049	SAMD9L	F/10 mo	Brother with cytopenias	11	Hypocellular dysplasia	45,XX, −7[17/20]	No	No	No	No	No	—	24 mo	Alive 5 years after HSCT
				<100
				0.72
085	SAMD9L	F/20 mo	Mother and uncle with mild intellectual disability	8.2	Dysplasia	Normal	No	Yes	Ig deficiency (IgG, 3 g)	Mild intellectual disability, hydrocephaly, bilateral white substance changes and arachnoid cyst on MRI	No	Asthma, coxa valga	27 mo	Neurological defects with unsteady gait (6-y old), cerebellar hypoplasia and abnormal white matter signal and arachnoid cyst on MRI. Growth defect and parenteral nutrition
				20
				1.7
260	SAMD9L RTEL1	M/46 y	—	10.9	Dysplasia	46,XY, der(7)[6]/ 46,XY,ish add(7)[14]	Yes	No	—	No	No	Tongue cancer, cirrhosis	—	Lost sight
				19
				<1
112	SAMD9L	F/19 mo	Simplex	8.1	N/A	Normal no −7 on FISH	No	Yes	N/A	No	No	—	19 mo	Died in intensive care unit during severe infection (21-mo old)
				5
				0.12
096	SAMD9	F/3 y	Simplex	11.9	Hypocellular dysplasia	45,XX, −7[12/20]	No	Yes	Severe infections	Abnormal white matter signal on MRI	No	Hyper-thyroidism	4 y	No GVHD, persistent hyperthyroidism (9-y old)
				240
				0
136	SAMD9	M/9 y	Simplex	12	Dysplasia	−7	ND	Yes	No	No	No	—	9 y	No major complication after HSCT (15-y old)
				15
				0.5
037	SAMD9	F/8 y	Simplex	10.2	Dysplasia	Normal	ND	Yes	Ig deficiency (IgM, IgG2, IgG4), recurrent infections	No	No	—	—	Thrombocytopenia with dysplasia in BM, normal karyotype, immunodeficiency (15-y old)
				14
				0.94
660	SAMD9	M/24 mo	Simplex	11.4	Dysplasia	45,XY, −7[14/20]	ND	Yes	No	Language delay	Hypospadias, testicular dysgenesis	Diarrhea	—	Complete regression of cytopenias and of −7, persists at 6-y old
				19
				0.7
062	SAMD9 RTEL1	F/M/21 y	Simplex	12.1	Hypocellular dysplasia	45,XY, −7	No	No	Recurrent severe infections	No	Hypospadias, cryptorchidism, sexual ambiguity, renal hypoplasia	Diarrhea	21 y	HSCT, died (22-y old)
				88
				0.5
026	SAMD9	F/6 y	Simplex	11.5	Hypocellular	45,XX, −7	No	Yes	IgG deficiency, recurrent infections	No	No	—	13 y	No major complication after HSCT (20-y old)
				102
				1.0

ID (UB)	Mutation	Sex/age	Family history	Hb, g/dL Plt, × 10⁹/L ANC, × 10⁹/L	BM	BM cytogenetic	Short TLM	GR	Immune deficiency	Neurological defect	Genitourinary abnormality	Other	Age at BMT	Outcome
195	SAMD9L*	M/8 mo	Consanguinity	6.5	Hypocellular dysplasia	45,XY, −7[7/15]	No	No	No	No	No	—	24 mo	Alive, 2 months after HSCT, GVHD
				5
				0.06
609	SAMD9L	F/13 mo	Yes (see Figure 3E)	<6	N/A	ND	ND	No	No	Nystagmus	No	—	—	Mild thrombocytopenia (33-y old)
				<2
				<1
612	SAMD9L	M/13 mo	Yes (see Figure 3E)	6	Hypocellular	45,XY, −7[16/28]	No	No	Transient Ig deficiency (IgG < 3 g)	Nystagmus	No	—	—	BM FISH −7[8%] (2-y old)
				10										Mild cytopenias (5-y old)
				0.25
194	SAMD9L	F/13 mo	Simplex	6	Hypocellular	45,XX, −7	No	No	No	No	No	—	25 mo	Spontaneous blood cell count improvement; relapse after vaccination; clonal progression with del6q; then HSCT
				17
				0.27
081	SAMD9L	M/13 mo	Uncle with Hodgkin disease	9.5	Hypocellular dysplasia	Normal, no −7 by FISH	ND	No	No	Hydrocephaly, arachnoid cyst on MRI	No	—	—	Complete regression of cytopenias (9-y old)
				3
				0.25
022	SAMD9L TERC	M/27 y	Father with transient thrombo-cytopenia. Grandfather died of AML	13	Hypocellular dysplasia	Del13q, then −7	Yes	No	Recurrent infection in infancy	No	No	Hepatitis, pulmonary fibrosis	33 y	RAEB1 with del13q and −7 (33-y old); CR after 1 cycle of azacytidine; HSCT; pulmonary fibrosis (37-y old)
				79
				1.68
049	SAMD9L	F/10 mo	Brother with cytopenias	11	Hypocellular dysplasia	45,XX, −7[17/20]	No	No	No	No	No	—	24 mo	Alive 5 years after HSCT
				<100
				0.72
085	SAMD9L	F/20 mo	Mother and uncle with mild intellectual disability	8.2	Dysplasia	Normal	No	Yes	Ig deficiency (IgG, 3 g)	Mild intellectual disability, hydrocephaly, bilateral white substance changes and arachnoid cyst on MRI	No	Asthma, coxa valga	27 mo	Neurological defects with unsteady gait (6-y old), cerebellar hypoplasia and abnormal white matter signal and arachnoid cyst on MRI. Growth defect and parenteral nutrition
				20
				1.7
260	SAMD9L RTEL1	M/46 y	—	10.9	Dysplasia	46,XY, der(7)[6]/ 46,XY,ish add(7)[14]	Yes	No	—	No	No	Tongue cancer, cirrhosis	—	Lost sight
				19
				<1
112	SAMD9L	F/19 mo	Simplex	8.1	N/A	Normal no −7 on FISH	No	Yes	N/A	No	No	—	19 mo	Died in intensive care unit during severe infection (21-mo old)
				5
				0.12
096	SAMD9	F/3 y	Simplex	11.9	Hypocellular dysplasia	45,XX, −7[12/20]	No	Yes	Severe infections	Abnormal white matter signal on MRI	No	Hyper-thyroidism	4 y	No GVHD, persistent hyperthyroidism (9-y old)
				240
				0
136	SAMD9	M/9 y	Simplex	12	Dysplasia	−7	ND	Yes	No	No	No	—	9 y	No major complication after HSCT (15-y old)
				15
				0.5
037	SAMD9	F/8 y	Simplex	10.2	Dysplasia	Normal	ND	Yes	Ig deficiency (IgM, IgG2, IgG4), recurrent infections	No	No	—	—	Thrombocytopenia with dysplasia in BM, normal karyotype, immunodeficiency (15-y old)
				14
				0.94
660	SAMD9	M/24 mo	Simplex	11.4	Dysplasia	45,XY, −7[14/20]	ND	Yes	No	Language delay	Hypospadias, testicular dysgenesis	Diarrhea	—	Complete regression of cytopenias and of −7, persists at 6-y old
				19
				0.7
062	SAMD9 RTEL1	F/M/21 y	Simplex	12.1	Hypocellular dysplasia	45,XY, −7	No	No	Recurrent severe infections	No	Hypospadias, cryptorchidism, sexual ambiguity, renal hypoplasia	Diarrhea	21 y	HSCT, died (22-y old)
				88
				0.5
026	SAMD9	F/6 y	Simplex	11.5	Hypocellular	45,XX, −7	No	Yes	IgG deficiency, recurrent infections	No	No	—	13 y	No major complication after HSCT (20-y old)
				102
				1.0

—, Not applicable; BMT, BM transplantation; CR, complete remission; FISH, fluorescence in situ hybridization; GR, growth restriction; GVHD, graft-versus-host disease; Ig, immunoglobulin; K, karyotype; N/A, not available; ND, not done; Plt, platelet count; TLM, telomere. Other abbreviations are explained in Tables 1-3.

SAMD9L homozygous mutation.

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