Table 1. Cytogenetics, Hematologic and Clinical Characteristics and Treatment Outcome of Patients with New Recurrent Translocationsa.
| Study/ Case No.b | Age/ Sex | Race | Karyotype | FAB | AML/MDS Type |
Hb (g /dL) | Plts (×109/L) | WBC (×109/L) | PB/BM blasts (%) |
Auer rods (+/−) |
Organ Involvement |
Responsec | DFS (mo) | OS (mo) | Induction Rxd |
Post-CR Rxd |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Translocations involving band 11p15: t(7;11)(q22;p15) | ||||||||||||||||
| This study/ Case #1 | 87/ M | White | 46,XY,t(7;11)(q22;p15.5)[15]/46,XY[5] | RARS | de novo | 9 | 659 | 5.1 | 0/0 | - | NR | NR | NA | 52.8+ | Vatalanib 10105 | NA |
| Kirsch 1985/ Case #1 | 47/ M | Black | 40,XY,−2,add(3)(q?),−5,t(7;11)(q22;p15), add(12)(p?),−14,−15,−16,−17,−18,−18,−19, −21,+4mar[cp50] | M6 | de novo | 1.7 | 4 | 12.5 | 9/63.6 | NR | NR | CR | 14+ | NR | AD | NR |
| Nebral 2005/ Case #8 | 65/ M | NR | 46,XY,t(7;11)(q22;p15)[2]/46,XY[4] | AMLNOS | NR | NR | NR | NR | NR/NR | NR | NR | NR | NR | NR | NR | NR |
| Ribeiro 1993/ Case #14 | 5/ F | NR | 46.XX,t(7;11)(q22;p15) | M7 | de novo | 10 | 26 | 6.4 | 26/49 | NR | No | R | NA | NR | AD | NA |
| t(7;11) with an 11p breakpoint specified as 11p14 has been reported in one additional case of AML, 46,XX,i(17)(q10)/46,idem,t(7;11)(q22;p14)/47,XX,+21 (Bao et al., 2006). | ||||||||||||||||
| Translocations involving band 11p15: t(10;11)(q23;p15) | ||||||||||||||||
| This study/ Case #2 | 52/ F | White | 46,XX,t(10;11)(q23;p15)[25] | M4 | de novo | 8.3 | 59 | 76.5 | 54/33 | + | S | CR | 8.1 | 9.2 | AD 8525 | HIDAC 8525 |
| The constitutional nature of this abnormality could not be excluded. | ||||||||||||||||
| Jankovic 2008/ Case #1 | 73/ M | NR | 45,X,−Y,t(10;11)(q23;p15)[15]/46,XY[5] | NA | RD | 9.1 | 49 | 2.35 | NR/90 | + | NR | CR | 96+ | 252+ | FLAG | IDAC/D, AutoSCT |
| Karyotype detected at the time of 2nd relapse; karyotype at diagnosis is unknown; CR1 duration = 5 years; CR2 duration = 8 years. | ||||||||||||||||
| Larson 1988/ Case #2084 | 39/ M | NR | 49,XY,t(1;12)(p36;q11),del(5)(q11q34), +del(5)(q11q34),add(8)(q13),i(8)(q10), add(9)(p22),t(10;11)(q23;p15),inv(18) (q12q21),+21,+mar1[7]/50,idem,+21[2]/ 52,idem, +21,+21,+mar2[2]/48,idem,−22, del(5)(p13p15)[7]/49,idem,+21,−22, del(5)(p13p15)[3]/49,idem,add(16)(p13)[3]/51,idem,+21,+21,add(16)(p13)[2]/ 46,XY[2] | AMLNOS | t-AML | NR | NR | NR | NR/ NR | NR | NR | CR | 5 | 6 | HIDAC | HIDAC |
| Pui 1995/ Case #1B | 4/ F | Black | 46,XX,t(10;11)(q22-24;p15)/46,idem, add(6)(p25) | M2 | t-AML | 9.9 | 82 | 1.5 | 14/10-18 | + | No | R | NA | 5.5 | ADE | NA |
| t(10;11) with a 10q breakpoint specified as 10q24 has been reported in one additional case of therapy-related AML, 46,XX,t(10;11)(q24;p15)/47,idem,−12,+2mar (Romana et al., 2006). | ||||||||||||||||
| Translocations involving band 12p13: t(2;12)(p13;p13) | ||||||||||||||||
| This study/ Case #3 | 76/ M | White | 46,XY,t(3;20)(q21;q13.3)[4]/46,XY, t(2;12)(p13;p13)[3]/46,XY[13] | NA | t-AML-RD | 8.6 | 38 | 33.9 | 3/84 | NR | NR | R | NA | 6.3 | E/A/ MX | NA |
| The t(2;12) was acquired at the time of relapse. At diagnosis, the patient had t-AML and the following karyotype: 45,XY,der(7)t(7;17)(p11.2;q11.2),−17[13]/45,XY[7]. | ||||||||||||||||
| This study/ Case #4 | 41/ M | White | 47,XY,t(5;13)(q15;q14),+mar[9]/47,idem, t(2;12)(p13;p13)[11] | NA | de novo-R | 9.5 | 60 | 16.5 | 0/26 | NR | NR | R | NA | 4.3 | LI/MX/A | NA |
| The t(2;12) was acquired at the time of primary resistant disease The karyotype at diagnosis was 47,XY,t(5;13)(q15;q14),+mar[22] (case 27 in Table 2). Patient had primary resistant AML with cytogenetic evolution on day 54 of induction chemotherapy. | ||||||||||||||||
| Hagiwara 1998/ Case #1 | 51/ M | Asian | 46,Y,t(X;13)(q28;q14),t(2;12)(p13;p13) [13]/46,XY[7] | NA | RD | NR | NR | NR | 12/80 | NR | LAD | NR | NR | NR | NR | NR |
| The t(2;12) was acquired at the time of relapse. At diagnosis, the patient had de novo AML and a normal karyotype. A similar translocation has been reported in a patient with AML, 45,X,−X,t(2;12)(p12;p13),del(5)(q?), t(11;14)(?p13;q32),−17,+mar (Lai et al., 1995). | ||||||||||||||||
| Translocations involving band 12p13: t(12;17)(p13;q12) | ||||||||||||||||
| This study/ Case #5 | 21/ F | White | 46,XX,t(12;17)(p13;q12)[9]/ 47,idem,+13[9]/46,XX[2] | M2 | de novo | 8.5 | 75 | 32 | 54/69 | + | S | R | NA | 37.4 | ADx2 9222 | NA |
| UKCCG 1992/ Case #3 | 20/ M | NR | 46,XY,t(12;17)(p13;q12)[12]/46,XY[2] | AML NOS | t-AML | NR | NR | 38.7 | NR/ NR | NR | NR | R | NA | < 2 | NR | NA |
| Two AML cases with a similar t(12;17)(p13;q11) as the two previous patients have been reported (Weinkauff et al., 1999; Martini et al., 2002; La Starza et al. 2005). | ||||||||||||||||
| Other translocations: t(2;3)(p21;p21) | ||||||||||||||||
| This study/ Case #6 | 21/ M | Black | 47,XY,+9[16]/47,idem,t(2;3)(p21;p21)[9] | M2 | de novo | 9.3 | 24 | 7.6 | 23/30 | + | No | CR | 151.8+ | 153+ | AD 9222 | HIDAC/MX/AZ 9222 |
| Wang 2010/ Case #04-1272 | NR/ M | NR | 46,XY,t(2;3)(p21;p21),del(3)(q21q26), t(7;11)(p21;p14)[19] | NA | RD | NR | NR | NR | NR/ NR | NR | NR | NR | NR | NR | NR | NR |
| The t(2;3) was acquired at the time of relapse. At diagnosis, the patient had de novo AML and a normal karyotype. | ||||||||||||||||
| Other translocations: t(5;21)(q31;q22) | ||||||||||||||||
| This study/ Case #7 | 51/ F | White | 45,Xc,t(5;21)(q31;q22)[10]/45,Xc[10] | M4 | de novo | 8 | 145 | 2.7 | 6/44 | - | No | CR | 6.6 | 11 | ADEx2 19808 | HIDAC/E, AutoSCT 19808 |
| Streubel 1998/ Case #32 | 37/ M | NR | 45,XY,t(3;12)(q26.2;p12.3), t(5;21)(q31;q22),−7,add(10)(p13-14) | M2 | de novo | NR | NR | NR | NR/ NR | NR | NR | R | NA | 3 | NR | NA |
| Other translocations: t(8;14)(q24.1;q32.2) | ||||||||||||||||
| This study/ Case #8 | 35/ M | White | 46,XY,t(8;14)(q24.1;q32.2)[7]/46,XY[21] | M4 | de novo | 8.2 | 94 | 123.2 | 80/84 | + | LAD | CR | 9.8 | 17.3 | ADEP 19808 | HIDAC/E, AutoSCT 19808 |
| This study/ Case #9 | 58/ F | White | 46,XX,t(8;12)(q22;p11.2), t(8;14)(q24.1;q32)[17]/46,XX[8] | NA | RD | 13.4 | 64 | 2.2 | NR/26 | NR | NR | R | NA | 15.4 | FLAG-I/MY | NA |
| The t(8;14) was acquired at the time of relapse. At diagnosis, the patient had de novo AML and a normal karyotype. This patient is also included in Table 2 (case 22) because she also harbors t(8;12)(q22;p11.2) thus far not previously described. | ||||||||||||||||
| Solé 1992 Case #8 | 65/ M | NR | 44,XY,dic(3;7)(q11;q36),−4,del(5)(q22), t(8;14)(q24;q32),−11,+mar | M2 | de novo | NR | NR | NR | NR/ NR | NR | NR | NR | NR | NR | NR | NR |
| Lee 1987 Case #7 | NR/ M | NR | 45,XY,der(1)t(1;15)(p36;q1?3), t(8;14)(q24;q32),add(13)(q34),del(13) (q12q14),−15/46,idem,add(6)(p25),+mar | M0 | de novo | NR | 34 | 98 | 100/ 99 | NR | NR | R | NA | < 1 | AD | NA |
| Hoppman-Chaney 2010 Case #1 | 59/ F | NR | 46,XX,del(7)(q32q34),t(8;14)(q24.1;q32) [20] | M0 | de novo | 7.7 | 101 | 91 | 71/NR | NR | NR | NR | NR | ∼18 | NR | NR |
| Translocation previously described in ALL: t(10;12)(p11;q15) | ||||||||||||||||
| This study/ Case #10 | 24/ M | White | 47,XY,+4,t(10;12)(p11;q15)[26]/46,idem, −18[3]/46,XY[2] | M1 | de novo | 11.9 | 229 | 3.7 | 50/88 | + | Pleural fluid | CR | 10.9 | 27.4+ | ADx2 8525 | AD |
| Coustan-Smith 2009 Case #6 | 14/ F | NR | 47,XX,+4,t(10;12)(p11.2;q15)[3]/ 47,idem,del(5)(q22q35)[3]/46,XX[14] | L1 | de novo | NR | NR | 2.8 | NR/ NR | NR | NR | NR | NR | NR | NR | NR |
Abbreviations: x2, two cycles of induction therapy; A, cytarabine; AD, cytarabine, daunorubicin; ADE, cytarabine, daunorubicin, etoposide; ADEP, cytarabine, daunorubicin, etoposide, valspodar; AML NOS, AML not otherwise specified; AutoSCT, autologous stem cell transplantation; AZ, diaziquone; BM, bone marrow; CR, complete remission; D, daunorubicin; DFS, disease-free survival from time of treatment for first diagnosis of recurrent translocation; E, etoposide; F, female; FAB, French-American-British classification; FLAG, fludarabine, cytarabine, filgrastim; Hb, hemoglobin; HIDAC, high-dose cytarabine; I, idarubicin; IDAC; intermediate-dose cytarabine; LAD, lymphadenopathy; LI, lintuzumab (humanized anti-CD33 antibody); M, male; mo, months; MX, mitoxantrone; MY, Mylotarg; NA, not applicable; NR, not reported; OS, overall survival from first diagnosis of AML; PB, peripheral blood; Plts, platelet count; R, primary resistant disease; RD, relapsed AML; Rx, therapy; S, splenomegaly; t-AML, therapy-related AML; WBC, white blood cell count.
Age, karyotype, hematologic and clinical characteristics at the time of diagnosis of AML/MDS with the new recurrent translocation.
Each case from the literature is denoted by the first author's name and year of publication of the study reporting them, followed by the case number.
Response to therapy for AML/MDS with new recurrent translocation (see footnote d).
Induction and post-remission therapy refer to initial treatment for patients with de novo AML/MDS or t-AML. For patients with relapsed AML, induction and post-remission therapy refer to treatment given at time of diagnosis of new recurrent translocation. The four- or five-digit number denotes a Cancer and Leukemia Group B study number a given patient was enrolled on as follows: 10105 (Gupta et al., 2006), 8525 (Mayer et al., 1994), 9720 (Baer et al., 2011), 9621 (Kolitz et al., 2004), 9222 (Moore et al., 2005), 10503 (Blum et al., 2010).