Complete Karyotypes and Clinical Information for Patients With CBFA2 Rearrangements
| Patient No. (UPN) . | Sex/ Age (yr) . | Diagnosis . | Clinical Status . | Source . | Karyotype . | FISH Analysis . |
|---|---|---|---|---|---|---|
| 1 | M/76 | AML-M2 | DX | BM | 47,XY,−7,+8,t(17;21)(q11.2;q22),+r[21] | Breakpoint in intron 6 |
| 2 | F/75 | MDS → AML-M4 | DX | BM | 46,XX,t(5;21)(q13;q22)[20] | Breakpoint in intron 6 |
| 3a | M/66 | RAEB-T → AML-M6 | DX | BM | 46,XY[20]-150 | |
| 3b | AML | RL | BM | 46,XY,t(12;21)(q24;q22)[18]/46,XY[4] | Breakpoint in intron 6 | |
| 4 (2213) | F/39 | t-AML (prev: HD, autoBMT) | RD | BM | 46,XX,t(11;12)(p15;q13),t(17;21)(q11.2;q22)[22] | Breakpoint in intron 5 |
| 5 (2199) | M/56 | t-MDS → t-AML (prev: MCL, autoBMT) | DX | BM | 46,XY,t(15;21)(q22;q22)[3]/46,XY[19] | Breakpoint in intron 6 |
| 6a (2161) | M/38 | t-MDS → t-AML (prev: HD) | DX | BM | 45,X,−Y,t(1;2)(p36;p21),del(5)(q23q35 or q22q34),t(14;21)(q22;q22)[11]/46,XY,t(1;2)(p36;p21),del(5)(q23q35 or q22q34),t(14;21)(q22;q22),t(2;12)(p21;p11)[20] | Breakpoint 5′ to exon 5 |
| 6b | RD | BM | 46,XY,t(1;2)(p36;p21),t(14;21)(q22;q22) [4]/45,idem, −Y,del(5)(q23q35 or q22q34)[2]/46,idem,del(5), t(2;12)(p21;p11)[1]/46,XY[11] | |||
| 7 (70)-151 | M/60 | t-AML (M1) (prev: lung cancer) | DX | BM | 46,XY,t(1;21)(p36;q22)[12] | Breakpoint in intron 6 |
| Patient No. (UPN) . | Sex/ Age (yr) . | Diagnosis . | Clinical Status . | Source . | Karyotype . | FISH Analysis . |
|---|---|---|---|---|---|---|
| 1 | M/76 | AML-M2 | DX | BM | 47,XY,−7,+8,t(17;21)(q11.2;q22),+r[21] | Breakpoint in intron 6 |
| 2 | F/75 | MDS → AML-M4 | DX | BM | 46,XX,t(5;21)(q13;q22)[20] | Breakpoint in intron 6 |
| 3a | M/66 | RAEB-T → AML-M6 | DX | BM | 46,XY[20]-150 | |
| 3b | AML | RL | BM | 46,XY,t(12;21)(q24;q22)[18]/46,XY[4] | Breakpoint in intron 6 | |
| 4 (2213) | F/39 | t-AML (prev: HD, autoBMT) | RD | BM | 46,XX,t(11;12)(p15;q13),t(17;21)(q11.2;q22)[22] | Breakpoint in intron 5 |
| 5 (2199) | M/56 | t-MDS → t-AML (prev: MCL, autoBMT) | DX | BM | 46,XY,t(15;21)(q22;q22)[3]/46,XY[19] | Breakpoint in intron 6 |
| 6a (2161) | M/38 | t-MDS → t-AML (prev: HD) | DX | BM | 45,X,−Y,t(1;2)(p36;p21),del(5)(q23q35 or q22q34),t(14;21)(q22;q22)[11]/46,XY,t(1;2)(p36;p21),del(5)(q23q35 or q22q34),t(14;21)(q22;q22),t(2;12)(p21;p11)[20] | Breakpoint 5′ to exon 5 |
| 6b | RD | BM | 46,XY,t(1;2)(p36;p21),t(14;21)(q22;q22) [4]/45,idem, −Y,del(5)(q23q35 or q22q34)[2]/46,idem,del(5), t(2;12)(p21;p11)[1]/46,XY[11] | |||
| 7 (70)-151 | M/60 | t-AML (M1) (prev: lung cancer) | DX | BM | 46,XY,t(1;21)(p36;q22)[12] | Breakpoint in intron 6 |
Abbreviations: AML, acute myeloid leukemia; MDS, myelodysplastic syndrome; RAEB-T, refractory anemia with excess blasts in transformation; t, therapy-related; prev, primary disease requiring chemotherapy; HD, Hodgkin disease; MCL, mantle cell lymphoma; BM, bone marrow; DX, diagnosis; RD, residual disease (posttherapy); RL, relapse; auto, autologous; BMT, BM transplant; UPN, unique patient number in the University of Chicago series.
No CBFA2 rearrangement was detected by interphase FISH analysis of 500 cells in the RAEB-T sample. See text for description of clinical status.
Patient previously reported as patient no. 70, Pedersen-Bjergaard and Philip.12 All other patients were ascertained through the Hematology/Oncology Cytogenetics Laboratory at the University of Chicago; none has been reported previously.