Clinical and molecular characteristics of T-ALL patients with MLL rearrangement
| Patient no., sex/age (y) . | Overall survival (follow up, y) . | Karyotype . | FISH analysis . | Fusion transcript . | Genomic breakpoint accession no. . |
|---|---|---|---|---|---|
| P1, M/19 | Alive (7), allografted | 46,XY[12]/44,XY,t(1;20)(p32;q12),-12,-13, +der(12)t(12;13)(p11-12;q11),der(14q), -21,-21,i(21q)[9] | NA | MLL(nt:3634)/AF10 (nt:1931) | AF490423 |
| P2, M/26 | Alive (3), allografted | 46,XY[8]/46,XY,der(7q),del(11)(q14q24)[18] | Split | MLL(nt:5952)/AF6q27 (nt:106) | AF490424 |
| P3, M/16 | Died (1) | 46,XY[11]/47,XY,del(9)(p22),del(11)(q21q23), del(13)(q14q21),+mar[15] | Split | MLL(nt:5655)/AF6q27 (nt:106) | NA |
| P4, M/24 | Died (2) | 45,XY,del(11)(q21q23-24),add(12)(p12), -18[1]/45,XY,idem,add(17)(p12)[2] | Split | MLL(nt:4086)/AF6q27 (nt:106) | NA |
| P5, M/36 | Died (1) | 46,XY[18]/46,XY,del(4)(q31q34),del(6)(q13q16-21), -15,-22,+mar[9] | Normal | Cleavage (topoisomerase II inhibitor site) |
| Patient no., sex/age (y) . | Overall survival (follow up, y) . | Karyotype . | FISH analysis . | Fusion transcript . | Genomic breakpoint accession no. . |
|---|---|---|---|---|---|
| P1, M/19 | Alive (7), allografted | 46,XY[12]/44,XY,t(1;20)(p32;q12),-12,-13, +der(12)t(12;13)(p11-12;q11),der(14q), -21,-21,i(21q)[9] | NA | MLL(nt:3634)/AF10 (nt:1931) | AF490423 |
| P2, M/26 | Alive (3), allografted | 46,XY[8]/46,XY,der(7q),del(11)(q14q24)[18] | Split | MLL(nt:5952)/AF6q27 (nt:106) | AF490424 |
| P3, M/16 | Died (1) | 46,XY[11]/47,XY,del(9)(p22),del(11)(q21q23), del(13)(q14q21),+mar[15] | Split | MLL(nt:5655)/AF6q27 (nt:106) | NA |
| P4, M/24 | Died (2) | 45,XY,del(11)(q21q23-24),add(12)(p12), -18[1]/45,XY,idem,add(17)(p12)[2] | Split | MLL(nt:4086)/AF6q27 (nt:106) | NA |
| P5, M/36 | Died (1) | 46,XY[18]/46,XY,del(4)(q31q34),del(6)(q13q16-21), -15,-22,+mar[9] | Normal | Cleavage (topoisomerase II inhibitor site) |
FISH analysis using an MLL probe (Vysis) showed that the MLL gene was split between chromosomes 6 and 11 in P2, P3, and P4. The nucleotide number for the fusion transcripts came from the cDNA sequences of MLL (Genbank accession no. NM_005933),AF10 (Genbank accession no. U13948), and AF6q27(Genbank accession no. U02478). For P1 and P2, the breakpoints were cloned and characterized, and the nucleotide sequences were filed at the Data Library of the National Center for Biotechnology Information.
M indicates male; NA, not available; and nt, nucleotide.