Main clinical and biological features and mutation status of patients
| UPN . | Age, y . | Sex . | Disease status at trisomy 21 . | Karyotype . | Treatments since diagnosis . | Response to IM . | BCR-ABL mutation . | RUNX1 mutation . | RUNX1-PRDM16 fusion . | Follow-up since trisomy 21, mo . | Outcome at latest follow-up . |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | 80 | F | Myeloid BC | 46,XX,t(9;22)(q34;q11) [9]/ 48,idem,+21,+der(22)t(9;22) [22] | Hydroxy-urea | ND | ND | K83Q | ND | 2 | Deceased |
| 2 | 49 | F | Myeloid BC (granulocytic sarcoma) | 47−48, XX, −3, der(5)t(3;5)(p21;q13), +8,t(9;22)(q34;q11),der(17)t(13;17)(q21;q23),−18,+20,+21,+mar [15] | IFN+ ARA-C radiotherapy, allograft, IM | None | ND | WT | ND | 1 | Deceased |
| 3 | 56 | F | Myeloid BC | 49,XX,−7, +8, t(9;22)(q34;q11), +19,+21,+der(22)t(9;22) [10] / 50,idem,+15[20] | IFN+ARA-C, IM, IM+ daunorubicin | CHR | ND | WT | ND | 2 | Deceased |
| 4 | 56 | F | De novo B-ALL | 51,XX,+6,+8,t(9;22)(q34;q11),+13,+21,+der(22)t(9;22) [44] / 46,XX [6] | Daunorubicin+ EDX+VCR + steroids, IM | CHR | ND | WT | ND | 3 | Deceased |
| 5 | 35 | F | Myeloid BC | 50,XX,+8,t(9;22)(q34;q11),+15, der(17)t(1;17)(q22;q22),+21,+der(22)t(9;22) [50] | IFN + ARA-C, IM, IM+ daunorubicin + ARA-C | CHR | WT | R80C | ND | 22 | Deceased |
| 6 | 40 | M | Myeloid BC | 46,XY, t(9;22)(q34;q11)[11]/ 57−60, idem, +1x2,+2,+3,add(4)(q33),+6,+8,+10,+15,+16,+21,+der(22)t(9;22)x2,+mar1,+mar2 [10] | Hydrea IFN autograft | ND | ND | WT | ND | 2 | Deceased |
| 7 | 50 | M | De novo B-ALL | 57,XY,+Xx2,+2,+4,+6,t(9;22)(q34;q11),+14,+16,+20,+21x2,+der(22)t(9;22)[22] / 46, XY[3] | Daunorubicin+ EDX+VCR+steroids, IM | Lost CCyR | ND | WT | ND | 2.5 | Deceased |
| 8 | 70 | M | Myeloid BC | 46,XY, t(9;22)(q34;q11) [8] / 46,XY, idem, i(17)(q10)[1] / 50,XY,+Y,idem,+19,+21,+der(22)t(9;22) [1] | Hydroxy-urea, ARA-C, autograft | ND | ND | WT | ND | 2 | Deceased |
| 9 | 36 | M | CP-CML | 47,XY, t(9;22)(q34;q11), +21[20] | Hydroxy-urea allograft | ND | ND | S114Stop | Yes | 144 | Alive |
| 10 | 67 | M | Myeloid BC | 59,XY,+6,t(9;22)(q34;q11),+10,+11,+13,+14,+17,+21x2,+22,+der(22)t(9;22),+mar1,+mar2,+mar t(?;17)(?;q11) [12] | Hydroxy-urea, ARA-C, idarubicin + ARA-C | ND | ND | WT | ND | 1 | Deceased |
| 11 | 56 | M | Myeloid BC | 51,XY,−6,+8,+9,t(9;22)(q34;q11)x2, add(12)(p11),−17,+19,+21,+der(22)t(9;22),+2 mar[4] / 46,XY [16] | IFN, IM, allograft | CHR | ND | L29S | Yes | NA | NA |
| 12 | 62 | F | Lymphoid BC | 48,XX,t(9;22)(q34;q11),+16,+21[3] / 46,XX [17] | IM+ARA-C; VCR+DXM, dasatinib | Lost CCyR | L384M | WT | ND | 15 | Alive |
| 13 | 50 | M | AP-CML | 52,XY,+6,+8,t(9;22)(q34;q11),+10,+17,+21,+der(22)t(9;22) [10] | IM, dasatinib | PHR | WT | WT | WT | 1 | Deceased |
| 14 | 56 | M | AML after CML myeloid BC | 46,XY,inv(3)(q21;q26),t(9;22)(q34;q11) [19] / 47,XY,idem,+21 [1] | IM, dasatinib, allograft | Lost CCyR | T315I | R80C | WT | 12 | Deceased |
| 15 | 41 | M | AP-CML | 51,XY,+7,+8,t(9;22)(q34;q11),+21, +der(22)t(9;22),+mar [12] | IFN, allograft, dasatinib | ND | ND | WT | ND | 40 | Deceased |
| 16 | 56 | F | De novo AML | 48,XX,+8, ,t(9;22)(q34;q11), add(9)(q22), del(17)(q22), +21 <inc> [4] | Dasatinib + danaurubicin DXM | ND | ND | WT | WT | 1 | Deceased |
| 17 | 40 | F | Th-ALL | 50,XX,+4,i(7)(q10),t(9;22)(q34;q11),del(12)(p11;p13),+20,+21,+der(22)t(9;22) [6] / 46,XX [2] | Dasatinib + DXM | ND | ND | WT | Yes | 3 | Alive |
| 18 | 50 | M | AP-CML | 47,XY, t(9;22)(q34;q11),+21[30] | Hydrea, IFN, ARA-C, IM, allograft | CHR | M244V | R196P | WT | 56 | Alive |
| UPN . | Age, y . | Sex . | Disease status at trisomy 21 . | Karyotype . | Treatments since diagnosis . | Response to IM . | BCR-ABL mutation . | RUNX1 mutation . | RUNX1-PRDM16 fusion . | Follow-up since trisomy 21, mo . | Outcome at latest follow-up . |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | 80 | F | Myeloid BC | 46,XX,t(9;22)(q34;q11) [9]/ 48,idem,+21,+der(22)t(9;22) [22] | Hydroxy-urea | ND | ND | K83Q | ND | 2 | Deceased |
| 2 | 49 | F | Myeloid BC (granulocytic sarcoma) | 47−48, XX, −3, der(5)t(3;5)(p21;q13), +8,t(9;22)(q34;q11),der(17)t(13;17)(q21;q23),−18,+20,+21,+mar [15] | IFN+ ARA-C radiotherapy, allograft, IM | None | ND | WT | ND | 1 | Deceased |
| 3 | 56 | F | Myeloid BC | 49,XX,−7, +8, t(9;22)(q34;q11), +19,+21,+der(22)t(9;22) [10] / 50,idem,+15[20] | IFN+ARA-C, IM, IM+ daunorubicin | CHR | ND | WT | ND | 2 | Deceased |
| 4 | 56 | F | De novo B-ALL | 51,XX,+6,+8,t(9;22)(q34;q11),+13,+21,+der(22)t(9;22) [44] / 46,XX [6] | Daunorubicin+ EDX+VCR + steroids, IM | CHR | ND | WT | ND | 3 | Deceased |
| 5 | 35 | F | Myeloid BC | 50,XX,+8,t(9;22)(q34;q11),+15, der(17)t(1;17)(q22;q22),+21,+der(22)t(9;22) [50] | IFN + ARA-C, IM, IM+ daunorubicin + ARA-C | CHR | WT | R80C | ND | 22 | Deceased |
| 6 | 40 | M | Myeloid BC | 46,XY, t(9;22)(q34;q11)[11]/ 57−60, idem, +1x2,+2,+3,add(4)(q33),+6,+8,+10,+15,+16,+21,+der(22)t(9;22)x2,+mar1,+mar2 [10] | Hydrea IFN autograft | ND | ND | WT | ND | 2 | Deceased |
| 7 | 50 | M | De novo B-ALL | 57,XY,+Xx2,+2,+4,+6,t(9;22)(q34;q11),+14,+16,+20,+21x2,+der(22)t(9;22)[22] / 46, XY[3] | Daunorubicin+ EDX+VCR+steroids, IM | Lost CCyR | ND | WT | ND | 2.5 | Deceased |
| 8 | 70 | M | Myeloid BC | 46,XY, t(9;22)(q34;q11) [8] / 46,XY, idem, i(17)(q10)[1] / 50,XY,+Y,idem,+19,+21,+der(22)t(9;22) [1] | Hydroxy-urea, ARA-C, autograft | ND | ND | WT | ND | 2 | Deceased |
| 9 | 36 | M | CP-CML | 47,XY, t(9;22)(q34;q11), +21[20] | Hydroxy-urea allograft | ND | ND | S114Stop | Yes | 144 | Alive |
| 10 | 67 | M | Myeloid BC | 59,XY,+6,t(9;22)(q34;q11),+10,+11,+13,+14,+17,+21x2,+22,+der(22)t(9;22),+mar1,+mar2,+mar t(?;17)(?;q11) [12] | Hydroxy-urea, ARA-C, idarubicin + ARA-C | ND | ND | WT | ND | 1 | Deceased |
| 11 | 56 | M | Myeloid BC | 51,XY,−6,+8,+9,t(9;22)(q34;q11)x2, add(12)(p11),−17,+19,+21,+der(22)t(9;22),+2 mar[4] / 46,XY [16] | IFN, IM, allograft | CHR | ND | L29S | Yes | NA | NA |
| 12 | 62 | F | Lymphoid BC | 48,XX,t(9;22)(q34;q11),+16,+21[3] / 46,XX [17] | IM+ARA-C; VCR+DXM, dasatinib | Lost CCyR | L384M | WT | ND | 15 | Alive |
| 13 | 50 | M | AP-CML | 52,XY,+6,+8,t(9;22)(q34;q11),+10,+17,+21,+der(22)t(9;22) [10] | IM, dasatinib | PHR | WT | WT | WT | 1 | Deceased |
| 14 | 56 | M | AML after CML myeloid BC | 46,XY,inv(3)(q21;q26),t(9;22)(q34;q11) [19] / 47,XY,idem,+21 [1] | IM, dasatinib, allograft | Lost CCyR | T315I | R80C | WT | 12 | Deceased |
| 15 | 41 | M | AP-CML | 51,XY,+7,+8,t(9;22)(q34;q11),+21, +der(22)t(9;22),+mar [12] | IFN, allograft, dasatinib | ND | ND | WT | ND | 40 | Deceased |
| 16 | 56 | F | De novo AML | 48,XX,+8, ,t(9;22)(q34;q11), add(9)(q22), del(17)(q22), +21 <inc> [4] | Dasatinib + danaurubicin DXM | ND | ND | WT | WT | 1 | Deceased |
| 17 | 40 | F | Th-ALL | 50,XX,+4,i(7)(q10),t(9;22)(q34;q11),del(12)(p11;p13),+20,+21,+der(22)t(9;22) [6] / 46,XX [2] | Dasatinib + DXM | ND | ND | WT | Yes | 3 | Alive |
| 18 | 50 | M | AP-CML | 47,XY, t(9;22)(q34;q11),+21[30] | Hydrea, IFN, ARA-C, IM, allograft | CHR | M244V | R196P | WT | 56 | Alive |
IM indicates imatinib mesylate; BC, blast crisis; ND, not done; IFN, interferon; ARA-C, cytarabine; WT, wild type; CHR, complete hematologic response; EDX, endoxan; VCR: vincristine; CCyR: complete cytogenetic response; NA, not available; DXM, dexamethasone; Th-ALL, therapy-related ALL; AP, accelerated phase; PHR, partial hematologic response; and UPN, unique patient number.