Results of the FICTION analyses for the REL andBCL11A loci in 44 cHLs
| . | Age at diagnosis, y . | Sex . | Estimated proportion of HRS cells . | HRS cells evaluated . | Copies of D2Z1median (range) . | Copies of REL median (range) . | Scores* median (range) . | REL probe split . | RELstatus . | BCL11A status . | |
|---|---|---|---|---|---|---|---|---|---|---|---|
| REL-D2Z1 . | REL/D2Z1 . | ||||||||||
| 1 | 25 | M | 1/100 | 17 | 4 (4-6) | 30 (10-30) | 26 (5-26) | 7.5 (2-7.5) | No | A | A |
| 2 | 21 | F | 1/50 | 24 | 5 (4-6) | ∼ 30 | 25 (24-26) | 6 (5-7.5) | No | A | A |
| 3 | 46 | M | 1/200 | 30 | 2 (2-4) | 8.5 (7-12) | 6.5 (2-10) | 3.8 (1.5-6) | No | A | A |
| 4 | 29 | F | 1/100 | 35 | 3 (3-6) | 11 (9-30) | 8 (5-24) | 3.7 (2.7-5) | No | A | A |
| 5 | 41 | M | 1/500 | 18 | 3 (3-4) | 10 (10-25) | 7 (1-21) | 3.3 (1.3-6.3) | No | A | A |
| 6 | 68 | F | 1/500 | 15 | 3 (2-9) | 10 (6-30) | 7 (2-21) | 3 (1.5-4.4) | No | A | A |
| 7 | 32 | F | 1/1000 | 7 | 4 (2-5) | 10 (7-30) | 6 (4-25) | 3 (2.5-6) | No | A | A |
| 8 | 28 | M | 1/1000 | 7 | 3 | 9 (7-12) | 6 (4-9) | 3 (2.3-4) | No | A | B |
| 9 | 21 | M | 1/500 | 6 | 4 | 10 (8-14) | 6 (4-10) | 2.5 (2-3.5) | No | G | G |
| 10 | 43 | F | 1/1000 | 7 | 4 (3-6) | 8 (7-10) | 4 (3-4) | 1.8 (1.7-2) | No | G | G |
| 11 | 23 | F | 1/100 | 9 | 4 (3-8) | 8 (4-17) | 4 (0-9) | 1.7 (1-2.7) | No | G | G |
| 12 | 27 | F | 1/50 | 18 | 3 (3-6) | 4 (4-7) | 1 (1-4) | 1.3 (1.3-2.3) | No | B | B |
| 13 | 36 | F | 1/1000 | 16 | 3 (3-8) | 4 (3-9) | 1 (0-2) | 1.3 (1-1.7) | No | B | B |
| 14 | 59 | M | 1/100 | 21 | 4 (3-4) | 4 (3-6) | 1 (0-2) | 1.2 (1-1.5) | No | B | B |
| 15 | 24 | F | 1/5000 | 6 | 4 | 4.5 (4-5) | 0.5 (0-1) | 1.1 (1-1.3) | No | B | B |
| 16 | 21 | F | 1/50 | 20 | 4 (4-6) | 4 (4-6) | 0 (0-2) | 1 (1-1.5) | No | B | B |
| 17 | 27 | M | 1/200 | 10 | 5.5 (3-6) | 5.5 (3-6) | 0 (0-1) | 1 (1-1.3) | Yes | R | B |
| 18 | 28 | M | 1/200 | 15 | 2 (2-3) | 2 (2-4) | 0 (0-1) | 1 (1-1.3) | No | B | B |
| 19 | 30 | M | 1/100 | 11 | 4 (3-6) | 4 (3-6) | 0 (0-1) | 1 (1-1.3) | No | B | B |
| 20 | 70 | F | 1/200 | 10 | 5 (4-6) | 5 (4-6) | 0 (0-1) | 1 (1-1.2) | No | B | B |
| 21 | 36 | M | 1/500 | 9 | 4 (4-5) | 5 (4-5) | 0 (0-1) | 1 (1-1.2) | No | B | B |
| 22 | 56 | M | 1/100 | 9 | 5 (5-6) | 5 (5-6) | 0 (0-1) | 1 (1-1.2) | No | B | B |
| 23 | 49 | M | 1/500 | 9 | 4 (3-6) | 4 (3-6) | 0 | 1 | No | B | B |
| 24 | 26 | M | 1/200 | 18 | 4 (3-6) | 4 (3-6) | 0 | 1 | No | B | B |
| 25 | 19 | M | 1/500 | 5 | 3 (3-4) | 3 (3-4) | 0 | 1 | No | B | B |
| 26 | 8 | M | 1/200 | 14 | 2 (2-4) | 2 (2-4) | 0 | 1 | No | B | B |
| 27 | 40 | M | 1/100 | 13 | 2 | 2 | 0 | 1 | No | B | B |
| 28 | 46 | M | 1/100 | 19 | 4 (3-6) | 4 (3-6) | 0 [(-1)-2] | 1 (0.8-1.7) | No | B | B |
| 29 | 20 | M | 1/100 | 14 | 4.5 (4-7) | 4.5 (4-7) | 0 [(-1)-1] | 1 (0.8-1.2) | No | B | B |
| 30 | 42 | F | 1/200 | 11 | 3 (2-5) | 3 (3-5) | 0 [(-1)-1] | 1 (0.7-1.5) | No | B | B |
| 31 | 41 | M | 1/100 | 12 | 4.5 (4-6) | 4 (4-6) | −0.5 [(-1)-0] | 0.9 (0.7-1) | No | B | B |
| 32 | 8 | M | 1/200 | 10 | ND | 9 (4-10) | NA | NA | No | NA | NA |
| 33 | 35 | M | 1/1500 | 14 | ND | 8 (4-10) | NA | NA | No | NA | NA |
| 34 | 34 | M | 1/1500 | 7 | ND | 6 (6-10) | NA | NA | No | NA | NA |
| 35 | 25 | F | 1/1000 | 6 | ND | 6 (6-10) | NA | NA | No | NA | NA |
| 36 | 15 | F | 1/500 | 7 | ND | 5 (4-10) | NA | NA | No | NA | NA |
| 37 | 20 | M | 1/100 | 14 | ND | 5 (5-10) | NA | NA | No | NA | NA |
| 38 | 66 | F | 1/100 | 20 | ND | 4.5 (3-8) | NA | NA | No | NA | NA |
| 39 | 57 | M | 1/200 | 20 | ND | 4 (4-10) | NA | NA | No | NA | NA |
| 40 | 66 | M | 1/300 | 7 | ND | 4 (3-5) | NA | NA | No | NA | NA |
| 41 | 23 | F | 1/100 | 26 | ND | 3.5 (3-7) | NA | NA | No | NA | NA |
| 42 | 23 | M | 1/1000 | 11 | ND | 2 (2-3) | NA | NA | No | NA | NA |
| 43 | 53 | M | 1/1000 | 10 | ND | 2 (2-3) | NA | NA | No | NA | NA |
| 44 | 28 | M | 1/200 | 26 | ND | 2 (1-3) | NA | NA | No | NA | NA |
| . | Age at diagnosis, y . | Sex . | Estimated proportion of HRS cells . | HRS cells evaluated . | Copies of D2Z1median (range) . | Copies of REL median (range) . | Scores* median (range) . | REL probe split . | RELstatus . | BCL11A status . | |
|---|---|---|---|---|---|---|---|---|---|---|---|
| REL-D2Z1 . | REL/D2Z1 . | ||||||||||
| 1 | 25 | M | 1/100 | 17 | 4 (4-6) | 30 (10-30) | 26 (5-26) | 7.5 (2-7.5) | No | A | A |
| 2 | 21 | F | 1/50 | 24 | 5 (4-6) | ∼ 30 | 25 (24-26) | 6 (5-7.5) | No | A | A |
| 3 | 46 | M | 1/200 | 30 | 2 (2-4) | 8.5 (7-12) | 6.5 (2-10) | 3.8 (1.5-6) | No | A | A |
| 4 | 29 | F | 1/100 | 35 | 3 (3-6) | 11 (9-30) | 8 (5-24) | 3.7 (2.7-5) | No | A | A |
| 5 | 41 | M | 1/500 | 18 | 3 (3-4) | 10 (10-25) | 7 (1-21) | 3.3 (1.3-6.3) | No | A | A |
| 6 | 68 | F | 1/500 | 15 | 3 (2-9) | 10 (6-30) | 7 (2-21) | 3 (1.5-4.4) | No | A | A |
| 7 | 32 | F | 1/1000 | 7 | 4 (2-5) | 10 (7-30) | 6 (4-25) | 3 (2.5-6) | No | A | A |
| 8 | 28 | M | 1/1000 | 7 | 3 | 9 (7-12) | 6 (4-9) | 3 (2.3-4) | No | A | B |
| 9 | 21 | M | 1/500 | 6 | 4 | 10 (8-14) | 6 (4-10) | 2.5 (2-3.5) | No | G | G |
| 10 | 43 | F | 1/1000 | 7 | 4 (3-6) | 8 (7-10) | 4 (3-4) | 1.8 (1.7-2) | No | G | G |
| 11 | 23 | F | 1/100 | 9 | 4 (3-8) | 8 (4-17) | 4 (0-9) | 1.7 (1-2.7) | No | G | G |
| 12 | 27 | F | 1/50 | 18 | 3 (3-6) | 4 (4-7) | 1 (1-4) | 1.3 (1.3-2.3) | No | B | B |
| 13 | 36 | F | 1/1000 | 16 | 3 (3-8) | 4 (3-9) | 1 (0-2) | 1.3 (1-1.7) | No | B | B |
| 14 | 59 | M | 1/100 | 21 | 4 (3-4) | 4 (3-6) | 1 (0-2) | 1.2 (1-1.5) | No | B | B |
| 15 | 24 | F | 1/5000 | 6 | 4 | 4.5 (4-5) | 0.5 (0-1) | 1.1 (1-1.3) | No | B | B |
| 16 | 21 | F | 1/50 | 20 | 4 (4-6) | 4 (4-6) | 0 (0-2) | 1 (1-1.5) | No | B | B |
| 17 | 27 | M | 1/200 | 10 | 5.5 (3-6) | 5.5 (3-6) | 0 (0-1) | 1 (1-1.3) | Yes | R | B |
| 18 | 28 | M | 1/200 | 15 | 2 (2-3) | 2 (2-4) | 0 (0-1) | 1 (1-1.3) | No | B | B |
| 19 | 30 | M | 1/100 | 11 | 4 (3-6) | 4 (3-6) | 0 (0-1) | 1 (1-1.3) | No | B | B |
| 20 | 70 | F | 1/200 | 10 | 5 (4-6) | 5 (4-6) | 0 (0-1) | 1 (1-1.2) | No | B | B |
| 21 | 36 | M | 1/500 | 9 | 4 (4-5) | 5 (4-5) | 0 (0-1) | 1 (1-1.2) | No | B | B |
| 22 | 56 | M | 1/100 | 9 | 5 (5-6) | 5 (5-6) | 0 (0-1) | 1 (1-1.2) | No | B | B |
| 23 | 49 | M | 1/500 | 9 | 4 (3-6) | 4 (3-6) | 0 | 1 | No | B | B |
| 24 | 26 | M | 1/200 | 18 | 4 (3-6) | 4 (3-6) | 0 | 1 | No | B | B |
| 25 | 19 | M | 1/500 | 5 | 3 (3-4) | 3 (3-4) | 0 | 1 | No | B | B |
| 26 | 8 | M | 1/200 | 14 | 2 (2-4) | 2 (2-4) | 0 | 1 | No | B | B |
| 27 | 40 | M | 1/100 | 13 | 2 | 2 | 0 | 1 | No | B | B |
| 28 | 46 | M | 1/100 | 19 | 4 (3-6) | 4 (3-6) | 0 [(-1)-2] | 1 (0.8-1.7) | No | B | B |
| 29 | 20 | M | 1/100 | 14 | 4.5 (4-7) | 4.5 (4-7) | 0 [(-1)-1] | 1 (0.8-1.2) | No | B | B |
| 30 | 42 | F | 1/200 | 11 | 3 (2-5) | 3 (3-5) | 0 [(-1)-1] | 1 (0.7-1.5) | No | B | B |
| 31 | 41 | M | 1/100 | 12 | 4.5 (4-6) | 4 (4-6) | −0.5 [(-1)-0] | 0.9 (0.7-1) | No | B | B |
| 32 | 8 | M | 1/200 | 10 | ND | 9 (4-10) | NA | NA | No | NA | NA |
| 33 | 35 | M | 1/1500 | 14 | ND | 8 (4-10) | NA | NA | No | NA | NA |
| 34 | 34 | M | 1/1500 | 7 | ND | 6 (6-10) | NA | NA | No | NA | NA |
| 35 | 25 | F | 1/1000 | 6 | ND | 6 (6-10) | NA | NA | No | NA | NA |
| 36 | 15 | F | 1/500 | 7 | ND | 5 (4-10) | NA | NA | No | NA | NA |
| 37 | 20 | M | 1/100 | 14 | ND | 5 (5-10) | NA | NA | No | NA | NA |
| 38 | 66 | F | 1/100 | 20 | ND | 4.5 (3-8) | NA | NA | No | NA | NA |
| 39 | 57 | M | 1/200 | 20 | ND | 4 (4-10) | NA | NA | No | NA | NA |
| 40 | 66 | M | 1/300 | 7 | ND | 4 (3-5) | NA | NA | No | NA | NA |
| 41 | 23 | F | 1/100 | 26 | ND | 3.5 (3-7) | NA | NA | No | NA | NA |
| 42 | 23 | M | 1/1000 | 11 | ND | 2 (2-3) | NA | NA | No | NA | NA |
| 43 | 53 | M | 1/1000 | 10 | ND | 2 (2-3) | NA | NA | No | NA | NA |
| 44 | 28 | M | 1/200 | 26 | ND | 2 (1-3) | NA | NA | No | NA | NA |
A indicates amplified; G, gain; B, balanced (for definitions see text); R, rearranged; ND, not determined; NA, not applicable; M, male; and F, female.
REL-D2Z1 is number of signals for theREL probe minus number of signals for the CEP2 probe;REL/D2Z1 is number of signals for the REL probe divided by number of signals for the CEP2 probe.