Supplementary material for Borkhardt et al., Proc. Natl. Acad. Sci. USA, 10.1073/pnas.150079597
Table 3. Data of 13 patients with hematologic neoplasms and various karyotype abnormalities involving the long arm of chromosome 5
No. | Sex | Age | Diagnosis | Blasts, % | Karyotype | Graf-FISH signals, % | Metaphase | Sequence analysis of second Graf allele | ||||
0 | 1 | 2 | 3 | 1 | 2 | |||||||
01 | m | 63 | MDS | 20 | 46,XY,del(5)(q13q31) | 1 | 74,7 | 24,3 | 0 | 3 | | WT |
02 | f | 71 | MDS | 10 | 46,XX,del(5)(q13q33),del(15)(q23) | 0 | 86 | 12,7 | 1,3 | | | WT |
03 | m | 12 | AML | 75 | 45;X0,del(5)(q14q34) 46;XY,del(5)(q14q34) | 2 | 88,4 | 9,6 | 0 | | | 1993ins74 |
04 | f | 51 | MDS | 28 | 40-44,XX,-4,del(5)(q13q33),del(7)(p15),-8,del(12)(q13),add(13)(q32),-14,-16,-17,add(19)(q13),2-7mar | 1,5 | 84 | 14,5 | 0 | 1 | | WT |
05 | m | 84 | AML | 35 | 45,XY,-5,del(5)(q13q31),del(6)(q15)?,del(6)(q15)?, del(7)(p15)hsr(7),(q22q24?),hsr(11)(q13),ad(14)(p11)-20ad(22)(p11)+r | 1,5 | 90 | 8,5 | 0 | 8 | | A1255G (N417S) |
06 | m | 67 | AML | 20 | 43,XY,t(3;5;14)(p25;q15;p11)-17,-18,-20,dmin 46,XY,add(1p)?,del(5)(q15),del(7)(q22),del(11)(q23) | 1,8 | 78,3 | 19,3 | 0,6 | 1 | | WT |
07 | f | 79 | AML | 65 | 54-55,XX,+X,del(5)(q13q31),+8,+10,+i(11q),add(12)(q24) +14,+18,+21,+22,t(9;11)(p21;q23)? | 4 | 88,5 | 6,5 | 1 | 23 | | 1290ins52 |
08 | f | 62 | MDS |
| 46,XX,del(5)(q13q33),del(12)(q13),t(13;16)(q22;q24) 46,XX,del(5)(q13q33),del(12)(q13),t(13;16)(q22;q24), add(15)(p10) | 1 | 84 | 15 | 0 | 8 | | WT |
09 | m | 6 | AML | 25 | 46,XX, der(1)(p?;q?),del(5)(q31),del(6)(p21.3) | 1,5 | 82,5 | 15 | 1 | | | WT |
10 | m | 65 | MDS | 25 | 43,XY,-5,-7,-8,-9,-12,-17,-20,+4mar | 0,5 | 77 | 22 | 0,5 | 7 | 1 | WT |
11 | f | 70 | AML | 19 | 44;XX,inv(3)(q21q26),inv(3)(q21;q26)t(3;9)(q21;q32),t(5;7) (p11;p11),dic(5;8)(p10;q34),-6,del(16)(p13q22),-17, add(19)(p13),+1-2mar | 0,8 | 94,7 | 4,1 | 0 | | | WT |
12 | m | 6 | AML | 15 | 46,XY,der(1)add(1)(p36)t(1;?)(q32;?),der(5)t(1;5)(q25;q22), der(6)t(6,?)(q15;?), del(7)(p14p15), del(17)(p12) | 5 | 84,5 | 10,5 | 0 | 4 | | WT |
13 | m | 43 | AML | 59 | 46,XY,del(4)(p14),t(4;5)(q34?;q11?),del(12)(q13), add(22)(q13?) | 1,5 | 82,5 | 15 | 0 | | | WT |
For fluorescense in situ hybridization (FISH) analysis, 200300 nuclei per sample were scored. Amino acids are shown in single-letter code in brackets. WT, wild type; RFS, reading frame shift; m, male; f, female; MDS, myelodysplastic syndrome; AML, acute myeloblastic leukemia.