Clinical and Cytogenetic Data of the 23 Cases With Balanced Translocations, Insertions, or Inversions Involving Band 12p13
| . | Age/Sex . | Diagnosis . | Stage . | Source . | Karyotype . |
|---|---|---|---|---|---|
| 1* | 65M | AML | RL | BM | 46,XY,t(5; 12)(q13; p13)[25]/46,XY[5] |
| 2* | 5M | ALL, SUPB2 | DX | cell line | 44,XY,del(2)(q13q37),t(3; 7)(q25; p15),der(4)t(2; 4)(q13; q25),inv(5)(q13q33),t(6; 12)(q23; p13), t(11; 17)(p11.2; p11.2),−14,del(17)(p11p13),dic(21; 21)(q21; q21) |
| 3* | 53M | MDS | CP | BCo | 47,XY,+8,t(8; 12)(q1?1; p13)[16]/unrelated clones[5]/46,XY[3] |
| 4* | 27F | t-AML | DX | BM | 46,XX,t(11; 12; 17)(q24; p13; p13)[29]/46,XX[2] |
| 5 | 3F | ALL-L1 | DX | BM | 46,XX,t(1; 12; 21)(p22; p13; q22.1)[8]/related clones[2]/46,XX[6] |
| 6* | 62M | AML-M1 or M2 | RL | BM | 46,XY,t(12; 22)(p13.3; q13.1),t(9; 13)(q32; q12)[10]/related clone[6]/unrelated clones[4]/46,XY[3] |
| 7* | 24M | CML | BC | LN | 46,XY,t(9; 22)(q34; q11),ins(19; 12)(q13; p13p11)[26] |
| 8* | 62M | ALL | DX | BM | 46,XY,t(6; 1; 12)(p2?5; q2?3; p13),t(4; 11)(q21; q23)[5]/46,XY[9] |
| 9* | 30M | NHL-LB | DX | BM | 46,XY,t(2; 12)(q31; p13),del(11)(q21)[9] |
| 10 | 53F | AML-M6 | DX | BCo | original karyotype: 44,XX,del(5)(q22q35),−7,add(9)(p2?2),del(12)(p11p13),−17,−18, der(19)t(7; 19)(p12; p13),+r[7]/45,idem,+mar1[4]/46,idem,+mar1,+mar2[3]/46,XX[6] |
| revised karyotype: 44,XX,del(5)(q22q35),−7,t(12; 9; mar1)(p13; p2?2; q?),−17,−18, der(19)t(7; 19)(p12; p13),+r[7]/45,idem,+mar2[4]/46,idem,+mar2,+mar3[3]/46,XX[6] | |||||
| 11 | 69M | MDS | RL | BM | original karyotype: 46,XY,t(3; 5)(q25; q34)[16]/46,idem,del(12)(p12p13),add(16)(q24)[4] |
| revised karyotype: 46,XY,t(3; 5)(q25; q34)[16]/46,idem,t(12; 16)(p13; q24)[4] | |||||
| 12* | 81M | AUL | DX | BM | 45,add(X)(p11),Y,−3,der(3)t(3; 15)(q12; q15),t(4; 7)(q21; q22),−5,t(9; 12; 14)(q34; p13; q22), del(12)(p11p13),der(15)del(15)(q11q15)t(3; 15)(q12; q15),der(18)t(3; 18)(q11; q1?2),+mar |
| 13 | 41F | AML-M4 | RL | BM | 46,XX,t(5; 12)(q33; p13),t(11; 19)(q23; p13.1)[7]/46,XX[14] |
| 14* | 12F | ALL-L1 | DX | BM | 55,XX,+X,+X,+X,+4,t(5; 12)(q13; p13),+6,+14,+17,+21,+21[18]/related clones[13] |
| 15 | 38M | CML | CP | BM | 46,XY,t(9; 22),(q34;q11),t(12; 18)(p13; q12)[10]/46,XY,t(9; 22),add(10)(p15)[9] |
| 16 | 55M | CML? | DX | BM | 46,XY,t(8; 12)(?q11; p13),t(9; 22)(q34; q11)[6]/46,XY,t(9; 22)[13] |
| 17 | 8F | ALL | RL | BM | 45,X,−X,t(1; 12)(p22; p13),del(6)(q1?3q2?1)[4]/46,XX[16] |
| 18 | 76F | NHL(B) | DX | LN | 49,XX,+7,+7,+12,−13,−22,del(1)(p31.3p34),del(4)(p14p15),del(6)(q23q27),del(15)(q13q15), t(3; 12)(p21; p13),t(14; 18)(q32; q21),+2der(18)t(14; 18)[10]/related clones[8] |
| 19 | 60F | ALL | DX | BM | 46,XX,t(5; 8; 14)(q11; q24; q32),t(12; 22)(p13; q11),(18)(q23)[21] |
| 20 | 74M | NHL | DX | LN | 49,XY,+Y,t(2; 12)(p11; p13),+12,add(14)(q32),t(1; 14)(q21; q32),+18[8]/ unrelated clones[2]/46,XY[8] |
| 21* | 21F | ALL-L3 | DX | BM | 47,XX,del(12)(p11p13),+del(12)(p11p13),t(12; 22)(p13; q13)[17]/46,XX[7] |
| 22* | 0.5F | AML | DX | BM | 46,XX,t(1; 12)(p32; p13.1),del(6)(q15q23),t(17; 20)(q23; p11.2)[7]/related clones[4]/46,XX[9] |
| 23 | 49F | AML-M6 | DX | BM | 46,XX,add(5)(q1?3),inv(12)(p13.1q11),−15,−17,del(20)(q11q13.1orq13.1q13.3),+der(?) t(?; 15)(?; q14),+mar1[16]/46,idem,del(7)(p11p22)[2]/92,XXXX, add(5)×2,inv(12)×2, −15,−15,−17,−17,del(20)×2,+der(?)×2,+mar1×2[6]/46,XX[4] |
| . | Age/Sex . | Diagnosis . | Stage . | Source . | Karyotype . |
|---|---|---|---|---|---|
| 1* | 65M | AML | RL | BM | 46,XY,t(5; 12)(q13; p13)[25]/46,XY[5] |
| 2* | 5M | ALL, SUPB2 | DX | cell line | 44,XY,del(2)(q13q37),t(3; 7)(q25; p15),der(4)t(2; 4)(q13; q25),inv(5)(q13q33),t(6; 12)(q23; p13), t(11; 17)(p11.2; p11.2),−14,del(17)(p11p13),dic(21; 21)(q21; q21) |
| 3* | 53M | MDS | CP | BCo | 47,XY,+8,t(8; 12)(q1?1; p13)[16]/unrelated clones[5]/46,XY[3] |
| 4* | 27F | t-AML | DX | BM | 46,XX,t(11; 12; 17)(q24; p13; p13)[29]/46,XX[2] |
| 5 | 3F | ALL-L1 | DX | BM | 46,XX,t(1; 12; 21)(p22; p13; q22.1)[8]/related clones[2]/46,XX[6] |
| 6* | 62M | AML-M1 or M2 | RL | BM | 46,XY,t(12; 22)(p13.3; q13.1),t(9; 13)(q32; q12)[10]/related clone[6]/unrelated clones[4]/46,XY[3] |
| 7* | 24M | CML | BC | LN | 46,XY,t(9; 22)(q34; q11),ins(19; 12)(q13; p13p11)[26] |
| 8* | 62M | ALL | DX | BM | 46,XY,t(6; 1; 12)(p2?5; q2?3; p13),t(4; 11)(q21; q23)[5]/46,XY[9] |
| 9* | 30M | NHL-LB | DX | BM | 46,XY,t(2; 12)(q31; p13),del(11)(q21)[9] |
| 10 | 53F | AML-M6 | DX | BCo | original karyotype: 44,XX,del(5)(q22q35),−7,add(9)(p2?2),del(12)(p11p13),−17,−18, der(19)t(7; 19)(p12; p13),+r[7]/45,idem,+mar1[4]/46,idem,+mar1,+mar2[3]/46,XX[6] |
| revised karyotype: 44,XX,del(5)(q22q35),−7,t(12; 9; mar1)(p13; p2?2; q?),−17,−18, der(19)t(7; 19)(p12; p13),+r[7]/45,idem,+mar2[4]/46,idem,+mar2,+mar3[3]/46,XX[6] | |||||
| 11 | 69M | MDS | RL | BM | original karyotype: 46,XY,t(3; 5)(q25; q34)[16]/46,idem,del(12)(p12p13),add(16)(q24)[4] |
| revised karyotype: 46,XY,t(3; 5)(q25; q34)[16]/46,idem,t(12; 16)(p13; q24)[4] | |||||
| 12* | 81M | AUL | DX | BM | 45,add(X)(p11),Y,−3,der(3)t(3; 15)(q12; q15),t(4; 7)(q21; q22),−5,t(9; 12; 14)(q34; p13; q22), del(12)(p11p13),der(15)del(15)(q11q15)t(3; 15)(q12; q15),der(18)t(3; 18)(q11; q1?2),+mar |
| 13 | 41F | AML-M4 | RL | BM | 46,XX,t(5; 12)(q33; p13),t(11; 19)(q23; p13.1)[7]/46,XX[14] |
| 14* | 12F | ALL-L1 | DX | BM | 55,XX,+X,+X,+X,+4,t(5; 12)(q13; p13),+6,+14,+17,+21,+21[18]/related clones[13] |
| 15 | 38M | CML | CP | BM | 46,XY,t(9; 22),(q34;q11),t(12; 18)(p13; q12)[10]/46,XY,t(9; 22),add(10)(p15)[9] |
| 16 | 55M | CML? | DX | BM | 46,XY,t(8; 12)(?q11; p13),t(9; 22)(q34; q11)[6]/46,XY,t(9; 22)[13] |
| 17 | 8F | ALL | RL | BM | 45,X,−X,t(1; 12)(p22; p13),del(6)(q1?3q2?1)[4]/46,XX[16] |
| 18 | 76F | NHL(B) | DX | LN | 49,XX,+7,+7,+12,−13,−22,del(1)(p31.3p34),del(4)(p14p15),del(6)(q23q27),del(15)(q13q15), t(3; 12)(p21; p13),t(14; 18)(q32; q21),+2der(18)t(14; 18)[10]/related clones[8] |
| 19 | 60F | ALL | DX | BM | 46,XX,t(5; 8; 14)(q11; q24; q32),t(12; 22)(p13; q11),(18)(q23)[21] |
| 20 | 74M | NHL | DX | LN | 49,XY,+Y,t(2; 12)(p11; p13),+12,add(14)(q32),t(1; 14)(q21; q32),+18[8]/ unrelated clones[2]/46,XY[8] |
| 21* | 21F | ALL-L3 | DX | BM | 47,XX,del(12)(p11p13),+del(12)(p11p13),t(12; 22)(p13; q13)[17]/46,XX[7] |
| 22* | 0.5F | AML | DX | BM | 46,XX,t(1; 12)(p32; p13.1),del(6)(q15q23),t(17; 20)(q23; p11.2)[7]/related clones[4]/46,XX[9] |
| 23 | 49F | AML-M6 | DX | BM | 46,XX,add(5)(q1?3),inv(12)(p13.1q11),−15,−17,del(20)(q11q13.1orq13.1q13.3),+der(?) t(?; 15)(?; q14),+mar1[16]/46,idem,del(7)(p11p22)[2]/92,XXXX, add(5)×2,inv(12)×2, −15,−15,−17,−17,del(20)×2,+der(?)×2,+mar1×2[6]/46,XX[4] |
Abbreviations: AML, acute myeloid leukemia; RL, relapse; BM, bone marrow; ALL, acute lymphoblastic leukemia; Dx, diagnosis; MDS, myelodysplastic syndrome; CP, chronic phase; BC, blast crisis; t-AML, treatment related AML; CML, chronic myelogenous leukemia; LN, lymph node; NHL, non-Hodgkin lymphoma; AUL, acute undifferentiated leukemia; BCo, bone core.
Patients 1 to 4, 6 to 9, 12, 14, 21, and 22 are patients 5, 1, 8, 7, 6, 9, 2, 10, 14, 3, 11, and 13, respectively, in Kobayashi et al.1 Patient 12 is described in Golub et al,7 patient 23 in Sato et al,20 and the SUPB2 cell line (patient 2) in Suto et al.5