Table 2 Characteristics of patient... | American Society of Hematology

Table 2

Characteristics of patient cohort selected for tumor/normal sequencing

Subject	Relationship	Age, y	RMG*	Exome	Gene	Protein	WHO classification	Karyotype
1001-001	Proband	24	X	X	GATA2	Intronic	RCMD	Normal
1001-005	Sister	21	X	X	GATA2	Intronic	AML with MDS-related features	Normal
1002-001	Proband	48	X	X	GATA2	p.R398W	RCMD	add(3)(q21),+8, del(12)(p11.2p13)
1003-003	Father	68	X	X	GATA2	p.T354M	AML with MDS-related features	Normal
1006-001	Proband	71	X		Unknown	NA	RCMD	Normal
1006-005	Maternal first cousin	61	X		Unknown	NA	RAEB-I	Normal
1010-009	Niece	44	X		Unknown	NA	MDS, unclassified	t(12;17;13) (q24.1;q23;q14.1)
1012-001	Proband	30	X		Unknown	NA	AML NOS (AML-M6a)	Normal
1014-001	Proband	65	X		Unknown	NA	AML NOS (AML-M6)	Normal
1015-001	Proband	37	X	X	RUNX1	p.R388X	MDS with isolated del(5q)	del(5q)
1015-002	Mother	49	X	X	RUNX1	p.R388X	AML with MDS-related features	Normal
1015-004	Daughter	18		X	RUNX1	p.R388X	Unaffected carrier	Not done
1016-001	Proband	54	X		Unknown	NA	AML NOS (AML-M6)	Unknown
1019-001	Proband	14		X	RUNX1	p.W279X	Hypoplastic without overt dysplasia	Normal
1019-003	Father	54		X	RUNX1	p.W279X	Unaffected carrier	Not done
1020-004	Aunt	86	X		Unknown	NA	RAEB-II	+8
1021-001	Proband	7	X	X	RUNX1	p.R204X	RAEB-I	del(7q)
1021-003	Father	40		X	RUNX1	p.R204X	Unaffected carrier	Not done
1021-004	Uncle	35		X	RUNX1	p.R204X	Unaffected carrier	Not done
1021-005	Paternal grandmother	61	X	X	RUNX1	p.R204X	RAEB-I	Normal
1022-001	Proband	41		X	RUNX1	p.L472fsX123	Unaffected carrier	Not done
1022-005	Daughter	8		X	RUNX1	p.L472fsX123	Unaffected carrier	Not done
1022-007	Brother	46		X	RUNX1	p.L472fsX123	Unaffected carrier	Not done
1024-001	Proband	50		X	RUNX1	p.Y260X	Dysmegakaryopoiesis	del(11q23), -Y
1024-005	Daughter	19		X	RUNX1	p.Y260X	Unaffected carrier	Unknown
1024-007	Daughter	12		X	RUNX1	p.Y260X	AML	t(2;11)(q31;p15)

Subject	Relationship	Age, y	RMG*	Exome	Gene	Protein	WHO classification	Karyotype
1001-001	Proband	24	X	X	GATA2	Intronic	RCMD	Normal
1001-005	Sister	21	X	X	GATA2	Intronic	AML with MDS-related features	Normal
1002-001	Proband	48	X	X	GATA2	p.R398W	RCMD	add(3)(q21),+8, del(12)(p11.2p13)
1003-003	Father	68	X	X	GATA2	p.T354M	AML with MDS-related features	Normal
1006-001	Proband	71	X		Unknown	NA	RCMD	Normal
1006-005	Maternal first cousin	61	X		Unknown	NA	RAEB-I	Normal
1010-009	Niece	44	X		Unknown	NA	MDS, unclassified	t(12;17;13) (q24.1;q23;q14.1)
1012-001	Proband	30	X		Unknown	NA	AML NOS (AML-M6a)	Normal
1014-001	Proband	65	X		Unknown	NA	AML NOS (AML-M6)	Normal
1015-001	Proband	37	X	X	RUNX1	p.R388X	MDS with isolated del(5q)	del(5q)
1015-002	Mother	49	X	X	RUNX1	p.R388X	AML with MDS-related features	Normal
1015-004	Daughter	18		X	RUNX1	p.R388X	Unaffected carrier	Not done
1016-001	Proband	54	X		Unknown	NA	AML NOS (AML-M6)	Unknown
1019-001	Proband	14		X	RUNX1	p.W279X	Hypoplastic without overt dysplasia	Normal
1019-003	Father	54		X	RUNX1	p.W279X	Unaffected carrier	Not done
1020-004	Aunt	86	X		Unknown	NA	RAEB-II	+8
1021-001	Proband	7	X	X	RUNX1	p.R204X	RAEB-I	del(7q)
1021-003	Father	40		X	RUNX1	p.R204X	Unaffected carrier	Not done
1021-004	Uncle	35		X	RUNX1	p.R204X	Unaffected carrier	Not done
1021-005	Paternal grandmother	61	X	X	RUNX1	p.R204X	RAEB-I	Normal
1022-001	Proband	41		X	RUNX1	p.L472fsX123	Unaffected carrier	Not done
1022-005	Daughter	8		X	RUNX1	p.L472fsX123	Unaffected carrier	Not done
1022-007	Brother	46		X	RUNX1	p.L472fsX123	Unaffected carrier	Not done
1024-001	Proband	50		X	RUNX1	p.Y260X	Dysmegakaryopoiesis	del(11q23), -Y
1024-005	Daughter	19		X	RUNX1	p.Y260X	Unaffected carrier	Unknown
1024-007	Daughter	12		X	RUNX1	p.Y260X	AML	t(2;11)(q31;p15)

AML-M6, acute erythroid leukemia; AML-M6a, erthroleukemia, consisting of myeloblasts and erythroid precursors; NA, not applicable; RAEB-I, refractory anemia with excess blasts (5%-10% marrow blasts); RAEB-II, refractory anemia with excess blasts (11%-20% marrow blasts); RCMD, refractory cytopenia with multilineage dysplasia; WHO, World Health Organization.

Targeted sequencing of 264 RMGs.

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