Characteristic of CBL family, TET2, ASXL1, and IDH family mutation positive patients
| Patient no.; diagnosis . | CBL . | CBLB . | TET2 . | ASXL1 . | IDH1 . | IDH2 . | Treatment . | Metaphase cytogenetics . | SNP-A . | BCR-ABL1 mutation . | ||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Gain . | Loss . | UPD . | ||||||||||
| 16; AP | WT | c., 1072−103 del (intron8-exon9) (hetero)* | T1114Nfs (hetero)* | WT | WT | WT | Allo BMT, imatinib mesylate | 45,XY,inv(3)(q21q26.2), t(5;6)(q11.2;p23), t(9;22)(q34;q11.2), inv(11)(p15q21), −18[20] | N | whole 18 | N | T315I |
| 20; AP | WT | WT | G1719R (hetero)* | WT | WT | WT | Imatinib mesylate | 46,XX,t(9;22)(q34;q11.2) [10]/ 47,XX,+8[3]/46,XX[2] | NE | NE | NE | NE |
| 30; BP (myeloid) | WT | R463W (hetero)* | C1298W (hetero)* | WT | WT | WT | Imatinib mesylate, dasatinib | 45,X,−Y,del(5)(q22q23), der(7)(7qter- > 7p12::22q13-> 22qter), der(9)(9pter-> 9q34::22q11.2−.22q13::7p22 > 7p13), der(22)t(9;22)(q34; q11.2)[19] | 18p11.21 | 7q11.21, whole Y | N | V299L |
| 34; BP (myeloid) | WT | WT | WT | E1102D (hetero)* | WT | WT | Hydroxyurea, IFN, allo BMT | 47,XX,+8,t(9;22)(q34;q11.2), i(17)(q10)[20] | Whole 8, 17p11.2qter | 17p13.3p11.2 | N | NE |
| 37; BP (myeloid) | P395A (hetero)* | WT | WT | WT | WT | WT | Imatinib mesylate, cytarabine, idarubicin | 46,XY,t(9;11)(9qter- > 9q24:: 11q25- > 11q14;11pter-> 11q14::9p24- > 9pter), t(9;22)(q34;q11.2)[20] | N | N | N | WT |
| 39; BP (myeloid) | WT | WT | E350K (hetero)* | WT | WT | WT | NE | 46,XY,t(9;22) (q34;q11.2)[20] | NE | NE | NE | NE |
| 40; BP (myeloid) | WT | WT | S1556Y (hetero)* | WT | WT | WT | Hydroxyurea, IFN, cytarabine, imatinib mesylate, dasatinib | 46,XY,t(1;12)(p22;p13), t(9;22)(q34;q11.2)[2]/48, sl,+8,+der(22)t(9;22)[18] | 1p22.2p13.3, 1q25.3q32.1, 1q32.3q41, whole 8, 9q34.12q34.3, 22q11.1q11.23 | 9q34.11q34.12, 22q11.23q12.3 | N | M244V |
| 42; BP (myeloid) | WT | WT | R1465X (hetero)* | WT | WT | WT | Imatinib mesylate | 46,XY,t(9;22)(q34;q11.2)[1]/45, idem,−7[19] | N | Whole 7 | N | NE |
| 44; BP (myeloid) | WT | WT | WT | W796X (hetero)* | R132C (hetero)* | WT | Hydroxyurea, IFN, mithramycin | 46,XY,t(9;22)(q34;q11.2)[3]/47, idem,+8,der(22)t(1;22) (q21;p11.2)[16] | 1q21.2qter, whole 8 | N | 11p15.5p12, 17q11.2qter | NE |
| 46; BP (myeloid) | WT | WT | WT | WT | WT | R140Q (hetero)* | Hydroxyurea | 46,XY,t(9;22)(q34;q11.2)[20] | NE | NE | NE | NE |
| Patient no.; diagnosis . | CBL . | CBLB . | TET2 . | ASXL1 . | IDH1 . | IDH2 . | Treatment . | Metaphase cytogenetics . | SNP-A . | BCR-ABL1 mutation . | ||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Gain . | Loss . | UPD . | ||||||||||
| 16; AP | WT | c., 1072−103 del (intron8-exon9) (hetero)* | T1114Nfs (hetero)* | WT | WT | WT | Allo BMT, imatinib mesylate | 45,XY,inv(3)(q21q26.2), t(5;6)(q11.2;p23), t(9;22)(q34;q11.2), inv(11)(p15q21), −18[20] | N | whole 18 | N | T315I |
| 20; AP | WT | WT | G1719R (hetero)* | WT | WT | WT | Imatinib mesylate | 46,XX,t(9;22)(q34;q11.2) [10]/ 47,XX,+8[3]/46,XX[2] | NE | NE | NE | NE |
| 30; BP (myeloid) | WT | R463W (hetero)* | C1298W (hetero)* | WT | WT | WT | Imatinib mesylate, dasatinib | 45,X,−Y,del(5)(q22q23), der(7)(7qter- > 7p12::22q13-> 22qter), der(9)(9pter-> 9q34::22q11.2−.22q13::7p22 > 7p13), der(22)t(9;22)(q34; q11.2)[19] | 18p11.21 | 7q11.21, whole Y | N | V299L |
| 34; BP (myeloid) | WT | WT | WT | E1102D (hetero)* | WT | WT | Hydroxyurea, IFN, allo BMT | 47,XX,+8,t(9;22)(q34;q11.2), i(17)(q10)[20] | Whole 8, 17p11.2qter | 17p13.3p11.2 | N | NE |
| 37; BP (myeloid) | P395A (hetero)* | WT | WT | WT | WT | WT | Imatinib mesylate, cytarabine, idarubicin | 46,XY,t(9;11)(9qter- > 9q24:: 11q25- > 11q14;11pter-> 11q14::9p24- > 9pter), t(9;22)(q34;q11.2)[20] | N | N | N | WT |
| 39; BP (myeloid) | WT | WT | E350K (hetero)* | WT | WT | WT | NE | 46,XY,t(9;22) (q34;q11.2)[20] | NE | NE | NE | NE |
| 40; BP (myeloid) | WT | WT | S1556Y (hetero)* | WT | WT | WT | Hydroxyurea, IFN, cytarabine, imatinib mesylate, dasatinib | 46,XY,t(1;12)(p22;p13), t(9;22)(q34;q11.2)[2]/48, sl,+8,+der(22)t(9;22)[18] | 1p22.2p13.3, 1q25.3q32.1, 1q32.3q41, whole 8, 9q34.12q34.3, 22q11.1q11.23 | 9q34.11q34.12, 22q11.23q12.3 | N | M244V |
| 42; BP (myeloid) | WT | WT | R1465X (hetero)* | WT | WT | WT | Imatinib mesylate | 46,XY,t(9;22)(q34;q11.2)[1]/45, idem,−7[19] | N | Whole 7 | N | NE |
| 44; BP (myeloid) | WT | WT | WT | W796X (hetero)* | R132C (hetero)* | WT | Hydroxyurea, IFN, mithramycin | 46,XY,t(9;22)(q34;q11.2)[3]/47, idem,+8,der(22)t(1;22) (q21;p11.2)[16] | 1q21.2qter, whole 8 | N | 11p15.5p12, 17q11.2qter | NE |
| 46; BP (myeloid) | WT | WT | WT | WT | WT | R140Q (hetero)* | Hydroxyurea | 46,XY,t(9;22)(q34;q11.2)[20] | NE | NE | NE | NE |
SNP-A indicates single nucleotide polymorphism arrays; UPD, uniparental disomy; AP, accelerated phase; WT, wild type; BMT, bone marrow transplantation; NE, not evaluated; N, negative; and BP, blast phase.
Heterozygous mutation.