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) |
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.