Table 3.
Cytogenetic analysis of primary patient samples and corresponding cell lines.
| Patient (P)/Cell Line (PER) | G-Banding Karyotype and Fluorescent In Situ Hybridization Analysis | Date Performed |
|---|---|---|
| P272 | Cytogenetic analysis unsuccessful due to insufficient number of metaphases | 04/1992 |
| PER-494 | 46,XX,der(4)(4pter->4p1?2::7p1?5->7p13::4q21->4p1?2::7p1?5->7pter),der(7)(11qter->11q23::7p13->7qter),add(8)(q24), der(11)(11pter->11q23::4q21->4qter)[20] Chromosome 11(q23) FISH studies were abnormal. A split KTM2A signal was detected in 95 of 100 interphase cells scored. Directed metaphase FISH testing confirmed a three-way translocation involving chromosomes 4, 11, and 7, with 5’ proximal KMT2A remaining on the der(11)t(4;11;7) and 3’ distal KMT2A translocating to 7p on the der(7)t(4;11;7), resulting in the oncogenic derivative 11 being formed (AFF1-KMT2A). Note: AFF1, formerly known as AF4 was not demonstrated by FISH analysis. Directed metaphase FISH testing using whole chromosome 4 and 7 paints confirmed this translocation and elucidated the subsequent inversion of the der(4)t(4;11;7) involving regions of 4 and 7 material. |
02/2018 |
| P272 at Relapse | 46,XX,add(4)(q12),del(7)(p14),add(8)(q24.3),der(9)inv(9)(p11q12)del(9)(p24),der(11)t(4;11)(q21;q23)[18]/46,XX[4] | 07/1992 |
| PER-485 | 47,X,-X,add(1)(p36.1),-4,+5,del(5)(q12q33),+6,add(7)(p13),add(8)(q24.3),der(11)t(4;11)(q21;q23),+mar[20] Directed metaphase whole chromosome 4 and 5 FISH paints confirmed the del(5q) and the presence of chromosomal 4 material on the marker. Directed metaphase KMT2A BAP FISH and whole chromosome 11 paint confirmed the presence of chromosomal 11 material on the add(7p) with rearrangement of the KMT2A gene resulting in 5’ proximal KMT2A remaining on the der(11)t(4;11) and 3’ distal KMT2A relocating to the add(7p) abnormality. |
01/2020 |
| P287 | 46,XX,t(4;11)(q21;q23)[15]/46,XX[5] | 10/1992 |
| PER-490 | 46,X,-X,+1,dic(1;21)(p11.2;q22),t(4;11)(q21;q23)[18]/46,idem,t(8;11)(q24;q14)[3] Chromosome 11(q23) FISH studies were abnormal. A split KMT2A signal was detected in 191 of the 200 interphase cells scored. KMT2A directed metaphase FISH confirmed the t(4;11) with 3’ distal KMT2A located on the der(4)t(4;11) and 5’ proximal KMT2A remaining on der(11)t(4;11). Directed metaphase whole chromosome 8 paint and KMT2A FISH analysis confirmed the t(8;11) abnormality with the presence of the intact KMT2A gene relocated onto the long (q) arm of the der(8)t(8;11). Directed metaphase whole chromosome 1 and 21 paints and RUNX1 breakapart FISH studies confirmed the dic(1;21) and the presence of an intact RUNX1 signal on the dic(1;21). |
10/2019 |
| P337 | 46,XX,der(2)(2pter->2q37::11q23->q23::13q32->qter),der(11)(11pter->q23::19p13.3->pter),der(13)(13pter->13q32::11q23->qter), der(19)(2qter->q37::19p13.3->qter)[88/100]/46,XX,t(11;13)(q23;q32)[12/100] | 01/2008 |
| PER-784 | 46,XX,t(11;13)(q23;q34)[16] Chromosome 11(q23) FISH studies were abnormal. A split KMT2A signal was detected in 182 of the 200 cells scored. Directed metaphase KMT2A breakapart FISH studies confirmed the t(11;13) abnormality. |
12/2019 |
| PER-826 | 46,XX,t(11;13)(q23;q34),?inv(18)(p11.2)[20] Directed metaphase KMT2A FISH and whole chromosome 11 paint confirmed the t(11;13) abnormality. |
12/2019 |
| P399 | 46,XX,t(4;11)(q21;q23)[20] | 11/1996 |
| PER-785 | 47,XX,t(4;11)(q21;q23),+19,der(19)t(1;19)(q12;p13.3)[20] Directed metaphase KMT2A FISH studies confirmed the t(4;11) abnormality with the 3’ distal KMT2A region translocated to the short arm of the derivative 4 chromosome and the 5’ proximal region remaining on the long arm of the derivative 11 chromosome. |
09/2020 |
| P810 | 46,XX,t(1;11)(p32;q23)[13]/46,XX[7] Chromosome 11(q23) FISH studies were abnormal. A split KMT2A signal was detected in 109 of the 200 cells scored. |
07/2007 |
| PER-703 | 79-83,XXX,-X,der(1)t(1;11)(p32;q23),t(1;11)(p32;q23)x2,-2,-4,der(5)t(1;5)(q21;q22),+7,-9,-10,-11,-11,-12,+13,-15,-16,-17,-18,-21,-21,-22[20] Directed metaphase KMT2A FISH studies confirmed the presence of the two t(1;11) aberrations and the additional der(1)t(1;11) abnormality. The signal patterns demonstrated a 3’ distal signal present on the short arm of the three copies of der(1)t(1;11) and a 5’ proximal signal remaining on the long arm of the two copies of der(11)t(1;11). |
09/2020 |
| P899 | 46,XY,t(9;11)(p21;q23)[14]/46,XY[6]Chromosome 11(q23) FISH studies were abnormal. A split KMT2A signal, was detected in 174 of the 200 cells scored. Directed KMT2A FISH analysis confirmed the t(9;11). | 11/2014 |
| PER-910 | 46,XY,t(9;11)(p21;q23)[20] Directed KMT2A FISH confirmed the t(9,11) abnormality demonstrating a 3’ distal KMT2A signal translocated to the short arm of the derivative 9 chromosome and the 5’ proximal signal remaining on the long arm of the derivative 11 chromosome. |
09/2020 |