Clinical and cytogenetic characteristic of the 22 patients with AML1 mutations
Case no. . | Age, y/sex . | Primary tumor histology (stage) . | Treatment for primary tumor (duration of therapy, mo) . | Time to develop t-MDS/t-AML, mo . | FAB subtype of t-MDS or t-AML . | Duration of t-MDS, mo . | Overall survival, mo . | Karyotype at diagnosis* . |
|---|---|---|---|---|---|---|---|---|
| 16 | 67/F | Non-Hodgkin NLWD (IIIB) | Vcr+Pred+Stn (6) | 48 | RAEB → t-AML | 44 | 62 | 45,XX,-7[13] |
| Ctx+Vcr+Predn (36) | 46,XX[7] | |||||||
| 38 | 39/M | Hodgkin NS (IIIB) | CVPPR (5), MOPPR (14) | 90 | RA → M1 | 5 | 6 | 46,XY,+1,dic(1;7)(p11;q11) [22]/46,XY,-5,del(7)(q22), +8,+21, der(21;22) (a10;q10)[6] |
| Bleo+Dtic+O+PR+Adm (14) | ||||||||
| Clb (17), BVPR (8) | ||||||||
| MOPPR (9) | ||||||||
| Stereocyt (19) | ||||||||
| 40 | 62/M | Non-Hodgkin DH (IB) | X-rays, 32 Gy Ctx+Vcr+PR (6) | 40 | RAEB → M4 | 5 | 6 | 44,XY,-7, +17, |
| Ctx+Vcr+PR (35) | dic(17;20)(p11;p11 or q11), dic(17;20),t(17;20)t(17;20), der(22)t(3;22)(q?;p11)[18]/46,XY[24] | |||||||
| 45 | 73/M | Waldenstrom macroglobulinemia: IgM kappa | Ctx+PR (16) | 21 | RAEB → M2 | 14 | 14 | 46,XY,del(5)(q?)[?] |
| 46 | 68/F | Ovarian carcinoma, cystadenocarinoma papill (IA) | Treosulfan (12) | 23 | RAEB → M4 | 38 | 39 | 46,XX[30] |
| 50 | 55/F | Breast cancer duct carc (adv disease) | X-ray, Ctx+Mtx+5FU (23) | 48 | RA → M4 | 7 | 12 | 45,XX,-7,dic(20;21) (p11 or q11;p11),+21[22] 46,XX[2] |
| 55 | 62/F | Cancer uterine cervix | Radium, 42 Gy | 72 | RAEB → M2 | 4 | 20 | 46,XX[43] |
| 62 | 62/F | Wegener granulomatosis | Ctx (50) | 50 | RA → t-AML | 7 | 22 | 45,XX,-7,+i(21)(q10)[11] |
| 46,XX[12] | ||||||||
| 71 | 61/M | Apudoma: liver+lung | CCNU+Vcr+Ctx+Vp16 (4) Streptozotocin (4) | 14 | t-MDS → M2 | 3 | 11 | 46,XX,der(7)t(7;8)(q22;q23) [27] |
| 72 | 72/F | Breast cancer duct carc (local disease) | X-ray McWhirter, 40 Gy | 138 | t-MDS → M4 | 3 | 4 | 46,XX,+1,dic(1;7)(p11;q11) [16]50,idem,+8,+9,+14, +21[13] |
| CCNU+Mel+Mtx+PR (28) | 84 | |||||||
| 4-epi+Adm (13) | ||||||||
| 93 | 49/M | Non-Hodgkin NPDL(IIIA) | Vcr+Pred+Stn (2), Vcr+Pred+Ctx (39), Clb (37), Ctx+Pred (7), Clb (12) | 159 | t-MDS → M4 | 2 | 7 | 47,XY,+1,dic(1;7)(p11;q11), +8[29] |
| 97 | 53/F | Breast cancer duct carc (dissem) | X-ray, 40.7 Gy | 137 | t-MDS | 1 | 1 | 45,XX,-7[12] |
| Ctx (15), Stereocyt+5FU+Mtx+Mit+Tam (22) | 112 | 45,idem,der(18)t(18;21) (q?;q?)[4]46,XX[5] | ||||||
| 31 | ||||||||
| 98 | 61/F | Breast cancer duct carc (dissem) | X-ray, 40.7 Gy | 79 | RAEB-t → M1 | 1 | 1 | 45,XX,-7[28] |
| Clb+5FU+Mtx+Mit+Tam (19) | 33 | |||||||
| 104 | 43/F | Thymoma | Ctx+CCNU+Vcr+Pred (18) | 94 | RAEB-t → M1 | 3 | 4 | 47,XX,+1,dic(1;7)(p11;q11), +8[32] |
| 108 | 69/M | Urinary bladder cancer | X-ray, urinary bladder, 40 Gy | 29 | RAEB | 2 | 2 | 45,XY,-3,-7,del(12)(p11), -16,+2mar[20]/46,XY[2] |
| 114 | 50/M | Hodgkin MC (IIIB) | Me+Vcr+Pro+Pred (6) | 78 | t-MDS | 19 | 19 | 46,XX,+1,dic(1;7)(p11;q11) [16]/46,XX[12] |
| 117 | 56/F | Non-Hodgkin NM (IIIA) | Ctx+Dox+Vcr+Pred+Bleo (7) | 89 | RA | 14 | 14 | 46,XX,+1,dic(1;7)(p11;q11) [19]/46,XX[6] |
| Ctx+Vcr+Pred (13), Clb+ Vcr+Pred (17), Clb (43) | ||||||||
| 128 | 53/F | Breast cancer (dissem) | Ctx+Mtx+5FU (14) | 55 | M4 | 1 | 45,XX,-7[30] | |
| 4-Epidox+Cis (14) | 33 | |||||||
| 136 | 58/M | Hodgkin NS (IA) | X-ray, neck, 20 Gy | 540 | RAEB → M4 | 8 | 13 | 46,XY[28] |
| X-ray, thoracic spine, 20 Gy | 521 | |||||||
| X-ray, neck, 36 Gy | 332 | |||||||
| X-ray, axilae, 37 Gy | 297 | |||||||
| MOPP (6) | 12 | |||||||
| 154 | 59/F | Rheumatoid arthritis | Azathio (6) | 48 | RARS | 4 | 4 | 47,XX,der(5)t(5;12) (q11.2;q24),der(7)t(7;11) (q11.2;q14),der(12)t(5;12) (q33;p13),t(18;20) (p11.2;q11.2),der(18)del (18)(p?),del(18)(q?),+der (18)'del(18)(p?)del(18)(q?) [9]/46-47,XX,der(5),der(7), der(8)t(8;12;8;12),t(10;12) (q11;p10),der(12)t(8;12), t(18;20)del(18)+del(18)' |
| Mtx+Pred (48) | ||||||||
| 160 | 15/F | Non-Hodgkin lymphoblastic (II A) | Ctx+Dox+Vcr+Pred (3) | 16 | M1 | 14 | 46,XX,der(5)del(5)(p?)del(5) (q?),-5,+mar[6]/46,XX, der(12)t(3;12)(p11;q11), der(16)t(16;21)46,XX[23] | |
| HD-Mtx (1) | 12 | |||||||
| BEAM+ASCT (PB) | 12 | |||||||
| 165 | 57/F | Non-Hodgkin NCB (IVB) | Ctx+Etop+Mtx+AraC+Pred (6) | 116 | RAEB → M4 | 3 | 4 | 46,XX,+1,dic(1;7)(p11;q11) [27] |
| Ctx+Dox+Vcr+Pred (8) | 109 | |||||||
| Ctx+Vcr+Pred (11) | 100 | |||||||
| Clb (10), Ctx (30) | 78 | |||||||
| Clb+Vcr+Pred (17) | 31 | |||||||
| Ctx+Vcr (3), Etop+Pro (4) | 6 |
Case no. . | Age, y/sex . | Primary tumor histology (stage) . | Treatment for primary tumor (duration of therapy, mo) . | Time to develop t-MDS/t-AML, mo . | FAB subtype of t-MDS or t-AML . | Duration of t-MDS, mo . | Overall survival, mo . | Karyotype at diagnosis* . |
|---|---|---|---|---|---|---|---|---|
| 16 | 67/F | Non-Hodgkin NLWD (IIIB) | Vcr+Pred+Stn (6) | 48 | RAEB → t-AML | 44 | 62 | 45,XX,-7[13] |
| Ctx+Vcr+Predn (36) | 46,XX[7] | |||||||
| 38 | 39/M | Hodgkin NS (IIIB) | CVPPR (5), MOPPR (14) | 90 | RA → M1 | 5 | 6 | 46,XY,+1,dic(1;7)(p11;q11) [22]/46,XY,-5,del(7)(q22), +8,+21, der(21;22) (a10;q10)[6] |
| Bleo+Dtic+O+PR+Adm (14) | ||||||||
| Clb (17), BVPR (8) | ||||||||
| MOPPR (9) | ||||||||
| Stereocyt (19) | ||||||||
| 40 | 62/M | Non-Hodgkin DH (IB) | X-rays, 32 Gy Ctx+Vcr+PR (6) | 40 | RAEB → M4 | 5 | 6 | 44,XY,-7, +17, |
| Ctx+Vcr+PR (35) | dic(17;20)(p11;p11 or q11), dic(17;20),t(17;20)t(17;20), der(22)t(3;22)(q?;p11)[18]/46,XY[24] | |||||||
| 45 | 73/M | Waldenstrom macroglobulinemia: IgM kappa | Ctx+PR (16) | 21 | RAEB → M2 | 14 | 14 | 46,XY,del(5)(q?)[?] |
| 46 | 68/F | Ovarian carcinoma, cystadenocarinoma papill (IA) | Treosulfan (12) | 23 | RAEB → M4 | 38 | 39 | 46,XX[30] |
| 50 | 55/F | Breast cancer duct carc (adv disease) | X-ray, Ctx+Mtx+5FU (23) | 48 | RA → M4 | 7 | 12 | 45,XX,-7,dic(20;21) (p11 or q11;p11),+21[22] 46,XX[2] |
| 55 | 62/F | Cancer uterine cervix | Radium, 42 Gy | 72 | RAEB → M2 | 4 | 20 | 46,XX[43] |
| 62 | 62/F | Wegener granulomatosis | Ctx (50) | 50 | RA → t-AML | 7 | 22 | 45,XX,-7,+i(21)(q10)[11] |
| 46,XX[12] | ||||||||
| 71 | 61/M | Apudoma: liver+lung | CCNU+Vcr+Ctx+Vp16 (4) Streptozotocin (4) | 14 | t-MDS → M2 | 3 | 11 | 46,XX,der(7)t(7;8)(q22;q23) [27] |
| 72 | 72/F | Breast cancer duct carc (local disease) | X-ray McWhirter, 40 Gy | 138 | t-MDS → M4 | 3 | 4 | 46,XX,+1,dic(1;7)(p11;q11) [16]50,idem,+8,+9,+14, +21[13] |
| CCNU+Mel+Mtx+PR (28) | 84 | |||||||
| 4-epi+Adm (13) | ||||||||
| 93 | 49/M | Non-Hodgkin NPDL(IIIA) | Vcr+Pred+Stn (2), Vcr+Pred+Ctx (39), Clb (37), Ctx+Pred (7), Clb (12) | 159 | t-MDS → M4 | 2 | 7 | 47,XY,+1,dic(1;7)(p11;q11), +8[29] |
| 97 | 53/F | Breast cancer duct carc (dissem) | X-ray, 40.7 Gy | 137 | t-MDS | 1 | 1 | 45,XX,-7[12] |
| Ctx (15), Stereocyt+5FU+Mtx+Mit+Tam (22) | 112 | 45,idem,der(18)t(18;21) (q?;q?)[4]46,XX[5] | ||||||
| 31 | ||||||||
| 98 | 61/F | Breast cancer duct carc (dissem) | X-ray, 40.7 Gy | 79 | RAEB-t → M1 | 1 | 1 | 45,XX,-7[28] |
| Clb+5FU+Mtx+Mit+Tam (19) | 33 | |||||||
| 104 | 43/F | Thymoma | Ctx+CCNU+Vcr+Pred (18) | 94 | RAEB-t → M1 | 3 | 4 | 47,XX,+1,dic(1;7)(p11;q11), +8[32] |
| 108 | 69/M | Urinary bladder cancer | X-ray, urinary bladder, 40 Gy | 29 | RAEB | 2 | 2 | 45,XY,-3,-7,del(12)(p11), -16,+2mar[20]/46,XY[2] |
| 114 | 50/M | Hodgkin MC (IIIB) | Me+Vcr+Pro+Pred (6) | 78 | t-MDS | 19 | 19 | 46,XX,+1,dic(1;7)(p11;q11) [16]/46,XX[12] |
| 117 | 56/F | Non-Hodgkin NM (IIIA) | Ctx+Dox+Vcr+Pred+Bleo (7) | 89 | RA | 14 | 14 | 46,XX,+1,dic(1;7)(p11;q11) [19]/46,XX[6] |
| Ctx+Vcr+Pred (13), Clb+ Vcr+Pred (17), Clb (43) | ||||||||
| 128 | 53/F | Breast cancer (dissem) | Ctx+Mtx+5FU (14) | 55 | M4 | 1 | 45,XX,-7[30] | |
| 4-Epidox+Cis (14) | 33 | |||||||
| 136 | 58/M | Hodgkin NS (IA) | X-ray, neck, 20 Gy | 540 | RAEB → M4 | 8 | 13 | 46,XY[28] |
| X-ray, thoracic spine, 20 Gy | 521 | |||||||
| X-ray, neck, 36 Gy | 332 | |||||||
| X-ray, axilae, 37 Gy | 297 | |||||||
| MOPP (6) | 12 | |||||||
| 154 | 59/F | Rheumatoid arthritis | Azathio (6) | 48 | RARS | 4 | 4 | 47,XX,der(5)t(5;12) (q11.2;q24),der(7)t(7;11) (q11.2;q14),der(12)t(5;12) (q33;p13),t(18;20) (p11.2;q11.2),der(18)del (18)(p?),del(18)(q?),+der (18)'del(18)(p?)del(18)(q?) [9]/46-47,XX,der(5),der(7), der(8)t(8;12;8;12),t(10;12) (q11;p10),der(12)t(8;12), t(18;20)del(18)+del(18)' |
| Mtx+Pred (48) | ||||||||
| 160 | 15/F | Non-Hodgkin lymphoblastic (II A) | Ctx+Dox+Vcr+Pred (3) | 16 | M1 | 14 | 46,XX,der(5)del(5)(p?)del(5) (q?),-5,+mar[6]/46,XX, der(12)t(3;12)(p11;q11), der(16)t(16;21)46,XX[23] | |
| HD-Mtx (1) | 12 | |||||||
| BEAM+ASCT (PB) | 12 | |||||||
| 165 | 57/F | Non-Hodgkin NCB (IVB) | Ctx+Etop+Mtx+AraC+Pred (6) | 116 | RAEB → M4 | 3 | 4 | 46,XX,+1,dic(1;7)(p11;q11) [27] |
| Ctx+Dox+Vcr+Pred (8) | 109 | |||||||
| Ctx+Vcr+Pred (11) | 100 | |||||||
| Clb (10), Ctx (30) | 78 | |||||||
| Clb+Vcr+Pred (17) | 31 | |||||||
| Ctx+Vcr (3), Etop+Pro (4) | 6 |
F indicates female; M, male; Vcr, vincristine; Pred, prednisone; Stn, streptonigrin; Ctx, cyclophosphamide; CVPP, lomustine + vinblastine + procarbazine + prednisone; MOPP, mechlorethamine + vincristine + procarbazine + prednisone; Clb, chlorambucil; 5FU, 5-fluouracil; Mtx, methotrexate; Mit, mitoxantrone; Tam, tamoxifen; Dhb, dihydroxybusulfan; Vlb, vinblastine; Pro, procarbazine; Dox, doxorubicin; Cis, cisplatin; Carbo, carboplatin; Ifos, ifosphamide; TCNU, tauromustine; Azathio, azathioprine; Fluda, fludarabine; Bleo, bleomycin; DTIC, dacarbazine; Etop, etoposide; Me, mechlorethamine; RA, refractory anemia; and RARS, refractory anemia ringed sideroblasts.
Many karyotypes have been revised by FISH.