Clinical information and tumor characteristics (immunophenotype, cytogenetics, and targeted DNA sequencing results) of relapsed/refractory ETP-ALL patients
| Patient . | Sex . | Age, y . | Clinical targeted sequencing results . | Cytogenetics . | Immunophenotype . | Source . | Days posttreatment . | Response to BMS-906024 . |
|---|---|---|---|---|---|---|---|---|
| P1 | F | 44 | ETV6 NM_001987 c.1105C>T p.R369W (AF 42.1%) ETV6 NM_001987 c.1106G>A p.R369Q (AF 44.9%) NOTCH1 NM_017617 c.7171C>T p.Q2391* (AF 51.2%) RUNX1 NM_001754 c.750_750insGG p.R251fs* (AF 29.4%) TP53 NM_000546 c.1119delA p.K374fs* (AF 55%) WT1 NM_024426 c.1109_1100-5GTCGCACATCCTGC ATCGGAC p.R367_370DVRRsplice (AF 39.1%) | 46,XX,inv(3)(p2?5q2?5),add(4)(q21),-6,add(19)(q13.1),+21,+der(?)t(6;?)(p21;?),+mar [cp17]//46,XY[3] | CD45 (dim), CD34, CD56, CD7, CD5 (subset), CD33, CD117 (subset), CD15 (subset) | Blood | 0 | Persistent disease after cycle 1 |
| P2 | M | 53 | CSF3R NM_000760, c.1853C>T, pT618I (AF 46.2%) DNMT3A NM_022552, c.1204C>T, p.Q402* (AF 99.3%) NOTCH1 NM_017617, c4775T>G, p.F1592C (AF 64.9%) PTPN11 NM_002834, c.854T>C, p.F285S (AF 40%) | 46, XY, karyotype with del(7p13) | CD45 (dim), CD34, CD3 (cytoplamic), CD5, CD7, CD33, and TdT (dim) | Blood | 0 | Complete response after 1 cycle (4 wk), reported in CSHML 2015 |
| P3 | M | 18 | GATA3 NM_001002295 c.830G>A p.R277Q (AF 46.2%) IL7R NM_002185 c.722T>A p.I241N (AF 50.2%) JAK1 NM_002227 c.2108C>A p.S703I (AF 68.8%) NOTCH1 NM_017617 c.4793C>G p.R1598P (AF 50%) NOTCH1 NM_017617 c.7399_7399insATGGAGAAATCC p.S2467fs* (AF 50%) | 46,XY,add(1)(q42)[13]/46,XY[7] | CD45 (dim), CD38, CD2, CD3 (cytoplasmic), CD7, CD13 | Blood | 0, 3, 10 | Initial drop, then rising blast count after 1-2 wk and persistent disease |
| P4 | F | 27 | NOTCH1 NM_017617 c.4721T>C p.L1574P (AF 47.8%) | 45,X,-X,del(1)(p13p22),add(5)(p15),del(5)(q22q31),der(6)del(6)(p11p21)del(6)(q13q21),add(9)(p13),-11,del(11)(q23),del(12)(p13),del(13)(q12q22),+der(?)t(?;1)(?;q21)[cp15]/47,idem,+X,del(6)(q13q22),−add(9),add(14)(p11.2),−17,+21,+22,del(22)(q13)[3]//46,XY[2].ish add(5)(MLL+),?add(9)(MLL+), 14q11(TRA/D+),add(14)(TRA/D+)[5/5] | CD45 (dim), CD34, TDT, CD7, CD33, CD117, CD3 (cytoplasmic) | Blood | 0, 1 | Persistent disease after cycle 1 |
| P5 | M | 39 | DNMT3A NM_175629 c.1987T>C p.S663P (AF 6.2%) JAK1 NM_002227 c.2171G>A p.R724H (AF 44.7%) JAK3 NM_000215 c.2872G>A p.E958K (AF 35.9%) NOTCH1 NM_017617 c.4778T>C p.L1593P (AF 75%) | 46,XY,del(12)(p11.2)[9]/46,XY[cp11] | CD45 (dim), HLA-DR (variable), CD117 (dim), CD56, CD5, CD7, CD3 (cytoplasmic) | Bone marrow (d 0)/blood (d 8, 15) | 0, 8, 15 | Persistent disease after cycle 1 |
| Patient . | Sex . | Age, y . | Clinical targeted sequencing results . | Cytogenetics . | Immunophenotype . | Source . | Days posttreatment . | Response to BMS-906024 . |
|---|---|---|---|---|---|---|---|---|
| P1 | F | 44 | ETV6 NM_001987 c.1105C>T p.R369W (AF 42.1%) ETV6 NM_001987 c.1106G>A p.R369Q (AF 44.9%) NOTCH1 NM_017617 c.7171C>T p.Q2391* (AF 51.2%) RUNX1 NM_001754 c.750_750insGG p.R251fs* (AF 29.4%) TP53 NM_000546 c.1119delA p.K374fs* (AF 55%) WT1 NM_024426 c.1109_1100-5GTCGCACATCCTGC ATCGGAC p.R367_370DVRRsplice (AF 39.1%) | 46,XX,inv(3)(p2?5q2?5),add(4)(q21),-6,add(19)(q13.1),+21,+der(?)t(6;?)(p21;?),+mar [cp17]//46,XY[3] | CD45 (dim), CD34, CD56, CD7, CD5 (subset), CD33, CD117 (subset), CD15 (subset) | Blood | 0 | Persistent disease after cycle 1 |
| P2 | M | 53 | CSF3R NM_000760, c.1853C>T, pT618I (AF 46.2%) DNMT3A NM_022552, c.1204C>T, p.Q402* (AF 99.3%) NOTCH1 NM_017617, c4775T>G, p.F1592C (AF 64.9%) PTPN11 NM_002834, c.854T>C, p.F285S (AF 40%) | 46, XY, karyotype with del(7p13) | CD45 (dim), CD34, CD3 (cytoplamic), CD5, CD7, CD33, and TdT (dim) | Blood | 0 | Complete response after 1 cycle (4 wk), reported in CSHML 2015 |
| P3 | M | 18 | GATA3 NM_001002295 c.830G>A p.R277Q (AF 46.2%) IL7R NM_002185 c.722T>A p.I241N (AF 50.2%) JAK1 NM_002227 c.2108C>A p.S703I (AF 68.8%) NOTCH1 NM_017617 c.4793C>G p.R1598P (AF 50%) NOTCH1 NM_017617 c.7399_7399insATGGAGAAATCC p.S2467fs* (AF 50%) | 46,XY,add(1)(q42)[13]/46,XY[7] | CD45 (dim), CD38, CD2, CD3 (cytoplasmic), CD7, CD13 | Blood | 0, 3, 10 | Initial drop, then rising blast count after 1-2 wk and persistent disease |
| P4 | F | 27 | NOTCH1 NM_017617 c.4721T>C p.L1574P (AF 47.8%) | 45,X,-X,del(1)(p13p22),add(5)(p15),del(5)(q22q31),der(6)del(6)(p11p21)del(6)(q13q21),add(9)(p13),-11,del(11)(q23),del(12)(p13),del(13)(q12q22),+der(?)t(?;1)(?;q21)[cp15]/47,idem,+X,del(6)(q13q22),−add(9),add(14)(p11.2),−17,+21,+22,del(22)(q13)[3]//46,XY[2].ish add(5)(MLL+),?add(9)(MLL+), 14q11(TRA/D+),add(14)(TRA/D+)[5/5] | CD45 (dim), CD34, TDT, CD7, CD33, CD117, CD3 (cytoplasmic) | Blood | 0, 1 | Persistent disease after cycle 1 |
| P5 | M | 39 | DNMT3A NM_175629 c.1987T>C p.S663P (AF 6.2%) JAK1 NM_002227 c.2171G>A p.R724H (AF 44.7%) JAK3 NM_000215 c.2872G>A p.E958K (AF 35.9%) NOTCH1 NM_017617 c.4778T>C p.L1593P (AF 75%) | 46,XY,del(12)(p11.2)[9]/46,XY[cp11] | CD45 (dim), HLA-DR (variable), CD117 (dim), CD56, CD5, CD7, CD3 (cytoplasmic) | Bone marrow (d 0)/blood (d 8, 15) | 0, 8, 15 | Persistent disease after cycle 1 |
AF, allele frequency.