Hematologic malignancies past and present in enrolled patients
| Patient . | Age at HM Dx (y) . | Sex . | RUNX1 variant DNA (NM_001754.4 or NC_000021) . | Variant type . | RUNX1 variant amino acid (NP_001745.2) . | Malignancy . | Somatic variants/cytogenetics . |
|---|---|---|---|---|---|---|---|
| FPD_53.1 | 34 | M | g.(?_36193766)_(36265301_?)dup | Large duplication | MDS-EB | ||
| FPD_42.4 | 71 | F | g.(?_36252569)_(36265636_?)del | Partial deletion | MDS with mutated SF3B1 | EZH2, SF3B1, NF1, SH2B2 | |
| FPD_10.4 | 50 | M | c.861C>A | Nonsense | p.Y287∗ | MDS NOS-SLD | 45,X,-Y,del(11)(q14q25)[5]/46,XY[15]. nuc ish 11q23(MLLx1)[14/200] |
| FPD_50.1 | 38 | M | g.(?_ 35734654)_( 36422677 _?)del | Whole deletion | MDS | 48,XY,+Y,+21[1]/46,XY[8]. nuc ish 11q23(5′MLLx2,3′MLLx1)(5′MLL con 3′MLLx1)[42/200] | |
| FPD_52.9 | 25 | M | c.601C>T | Nonsense | p.R201∗ | MDS | |
| FPD_35.1 | 42 | M | c.1242C>G | Nonsense | p.Y414∗ | AML with myelodysplasia-related gene mutations; progressing from MDS | BCOR, PHF6, U2AF1 46,XY[7].nuc ish 5q31(EGR1x1)[14/200] |
| FPD_14.3 | 56 | M | c.1412_1413dup | Frameshift | p.L472fs | AML NOS progressing from MDS | |
| FPD_60.1 | 52 | M | c.830delC | Frameshift | p.P277Hfs∗34 | AML NOS progressing from MDS | GATA2 |
| FPD_29.5 | 47 | F | c.484A>G | Missense | p.R162G | AML NOS | 92,XXXX,add(2)(q12),idic(17)(q11.2)[6] |
| FPD_17.1 | 45 | F | c.352-1G>T | Splice site | AML NOS progressing from MDS | ||
| FPD_10.9 | 12 | F | c.861C>A | Nonsense | p.Y287∗ | AML NOS | |
| FPD_10.6 | 19 | M | c.861C>A | Nonsense | p.Y287∗ | AML NOS | 51,XY,+4,+8,+9,t(11;19),+13,del19,+21 |
| FPD_68.1 | 8 | F | c.602G>A | Missense | p.R201Q | AML NOS | KRAS G13D |
| FPD_52.14 | 8 | F | c.601C>T | Nonsense | p.R201∗ | AML NOS | |
| FPD_42.1 | 63 | M | g.(?_36252569)_(36265636_?)del | Partial deletion | CMML | JAK2 V617F, ASXL1, and SRSF2 | |
| FPD_12.1 | 58 | F | c.508+3del | Splice site | CMML progressing from MDS | BCOR, PHF6, KMT2D, NRAS, KRAS, SUZ12, CCND2, and SLX4 46,XX[20].ish del(5)(q31q31)(EGR1-)[3] | |
| FPD_23.2 | 17 | M | c.719del | Frameshift | p.P240Hfs∗14 | B-ALL with PDGFRB rearrangement | 46,XY[20]. FISH-negative result EBF1-PDGRFB fusion by sequencing |
| FPD_49.1 | 2 | M | g.(?_35423737)_(37592741_?)del | Whole deletion | T-ALL, NOS | MARS 46,XY,der(5)t(5;13)(q23;q14),del(11)(q13q23)[8]/47,idem,+19[3]/46,XY[10] | |
| FPD_5.2 | 73 | F | c.477T>G | Missense | p.N159K | Smoldering myeloma | 46,XX[20].nuc ish 11q13(CCND1-XT),14q32(IGH-XT))x3 (CCND1-XT con IGH-XTx2)[40/50] |
| Patient . | Age at HM Dx (y) . | Sex . | RUNX1 variant DNA (NM_001754.4 or NC_000021) . | Variant type . | RUNX1 variant amino acid (NP_001745.2) . | Malignancy . | Somatic variants/cytogenetics . |
|---|---|---|---|---|---|---|---|
| FPD_53.1 | 34 | M | g.(?_36193766)_(36265301_?)dup | Large duplication | MDS-EB | ||
| FPD_42.4 | 71 | F | g.(?_36252569)_(36265636_?)del | Partial deletion | MDS with mutated SF3B1 | EZH2, SF3B1, NF1, SH2B2 | |
| FPD_10.4 | 50 | M | c.861C>A | Nonsense | p.Y287∗ | MDS NOS-SLD | 45,X,-Y,del(11)(q14q25)[5]/46,XY[15]. nuc ish 11q23(MLLx1)[14/200] |
| FPD_50.1 | 38 | M | g.(?_ 35734654)_( 36422677 _?)del | Whole deletion | MDS | 48,XY,+Y,+21[1]/46,XY[8]. nuc ish 11q23(5′MLLx2,3′MLLx1)(5′MLL con 3′MLLx1)[42/200] | |
| FPD_52.9 | 25 | M | c.601C>T | Nonsense | p.R201∗ | MDS | |
| FPD_35.1 | 42 | M | c.1242C>G | Nonsense | p.Y414∗ | AML with myelodysplasia-related gene mutations; progressing from MDS | BCOR, PHF6, U2AF1 46,XY[7].nuc ish 5q31(EGR1x1)[14/200] |
| FPD_14.3 | 56 | M | c.1412_1413dup | Frameshift | p.L472fs | AML NOS progressing from MDS | |
| FPD_60.1 | 52 | M | c.830delC | Frameshift | p.P277Hfs∗34 | AML NOS progressing from MDS | GATA2 |
| FPD_29.5 | 47 | F | c.484A>G | Missense | p.R162G | AML NOS | 92,XXXX,add(2)(q12),idic(17)(q11.2)[6] |
| FPD_17.1 | 45 | F | c.352-1G>T | Splice site | AML NOS progressing from MDS | ||
| FPD_10.9 | 12 | F | c.861C>A | Nonsense | p.Y287∗ | AML NOS | |
| FPD_10.6 | 19 | M | c.861C>A | Nonsense | p.Y287∗ | AML NOS | 51,XY,+4,+8,+9,t(11;19),+13,del19,+21 |
| FPD_68.1 | 8 | F | c.602G>A | Missense | p.R201Q | AML NOS | KRAS G13D |
| FPD_52.14 | 8 | F | c.601C>T | Nonsense | p.R201∗ | AML NOS | |
| FPD_42.1 | 63 | M | g.(?_36252569)_(36265636_?)del | Partial deletion | CMML | JAK2 V617F, ASXL1, and SRSF2 | |
| FPD_12.1 | 58 | F | c.508+3del | Splice site | CMML progressing from MDS | BCOR, PHF6, KMT2D, NRAS, KRAS, SUZ12, CCND2, and SLX4 46,XX[20].ish del(5)(q31q31)(EGR1-)[3] | |
| FPD_23.2 | 17 | M | c.719del | Frameshift | p.P240Hfs∗14 | B-ALL with PDGFRB rearrangement | 46,XY[20]. FISH-negative result EBF1-PDGRFB fusion by sequencing |
| FPD_49.1 | 2 | M | g.(?_35423737)_(37592741_?)del | Whole deletion | T-ALL, NOS | MARS 46,XY,der(5)t(5;13)(q23;q14),del(11)(q13q23)[8]/47,idem,+19[3]/46,XY[10] | |
| FPD_5.2 | 73 | F | c.477T>G | Missense | p.N159K | Smoldering myeloma | 46,XX[20].nuc ish 11q13(CCND1-XT),14q32(IGH-XT))x3 (CCND1-XT con IGH-XTx2)[40/50] |
All RUNX1 variants are described using the NM_001754.5, NP_001745.2, and NC_000021.
Dx, diagnosis; F, female; M, male; MDS NOS-SLD, MDS, not otherwise specified, with single lineage dysplasia; MDS-EB, MDS with excess blasts.