Table 2

Characteristics of patient cohort selected for tumor/normal sequencing

SubjectRelationshipAge, yRMG*ExomeGeneProteinWHO classificationKaryotype
1001-001Proband24XXGATA2IntronicRCMDNormal
1001-005Sister21XXGATA2IntronicAML with MDS-related featuresNormal
1002-001Proband48XXGATA2p.R398WRCMDadd(3)(q21),+8, del(12)(p11.2p13)
1003-003Father68XXGATA2p.T354MAML with MDS-related featuresNormal
1006-001Proband71XUnknownNARCMDNormal
1006-005Maternal first cousin61XUnknownNARAEB-INormal
1010-009Niece44XUnknownNAMDS, unclassifiedt(12;17;13) (q24.1;q23;q14.1)
1012-001Proband30XUnknownNAAML NOS (AML-M6a)Normal
1014-001Proband65XUnknownNAAML NOS (AML-M6)Normal
1015-001Proband37XXRUNX1p.R388XMDS with isolated del(5q)del(5q)
1015-002Mother49XXRUNX1p.R388XAML with MDS-related featuresNormal
1015-004Daughter18XRUNX1p.R388XUnaffected carrierNot done
1016-001Proband54XUnknownNAAML NOS (AML-M6)Unknown
1019-001Proband14XRUNX1p.W279XHypoplastic without overt dysplasiaNormal
1019-003Father54XRUNX1p.W279XUnaffected carrierNot done
1020-004Aunt86XUnknownNARAEB-II+8
1021-001Proband7XXRUNX1p.R204XRAEB-Idel(7q)
1021-003Father40XRUNX1p.R204XUnaffected carrierNot done
1021-004Uncle35XRUNX1p.R204XUnaffected carrierNot done
1021-005Paternal grandmother61XXRUNX1p.R204XRAEB-INormal
1022-001Proband41XRUNX1p.L472fsX123Unaffected carrierNot done
1022-005Daughter8XRUNX1p.L472fsX123Unaffected carrierNot done
1022-007Brother46XRUNX1p.L472fsX123Unaffected carrierNot done
1024-001Proband50XRUNX1p.Y260XDysmegakaryopoiesisdel(11q23), -Y
1024-005Daughter19XRUNX1p.Y260XUnaffected carrierUnknown
1024-007Daughter12XRUNX1p.Y260XAMLt(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.