Relative expression of EVI1 splice variants (-1D, -1A, -1B, -1C, -3L) and MDS1/EVI1 (ME), a priori karyotype and final FISH results in EVI1+ patients from cohorts A and B
No. . | 1D . | 1A . | 1B . | 1C . | 3L . | ME . | Karyotype (ISCN 1995) . | FISH . |
---|---|---|---|---|---|---|---|---|
Cohort A | ||||||||
1 | 850 | 1634 | 199 | 80 | 819 | 0,1 | 45,XY,inv(3)(p12p2?4),−7[16]/46,XY[8] | inv(3) |
2 | 540 | 2159 | 75 | 73 | 157 | 0,2 | 45,XY,t(3;3)(q21;q26),−7[20] | ND |
3 | 254 | 1473 | 42 | 6 | 479 | 0,1 | 46,XY,t(3;3)(q21;q26)[51] | ND |
4 | 265 | 1405 | 67 | 58 | 76 | 0,0 | 45,XX,−7[24] | inv(3) |
5 | 352 | 88 | 33 | 4 | 65 | 0,5 | 47,XX,del(5)(q23q34),+del(21)(q21q22)[4]/47,idem,t(2;3)(p2?2;q2?7)[20]/46,XX[3] | t(2;3) |
6 | 796 | 943 | 160 | 225 | 131 | 3 | 45,XY,inv(3)(q21q26.2),−7[13] | ND |
7 | 68 | 74 | 47 | 5 | 43 | 8 | 45,XY,−7[16] | inv(3) |
8 | 166 | 177 | 42 | 5 | 43 | 25 | 46,XY[14] | NA |
9 | 50 | 84 | 21 | 3 | 137 | 89 | 48,XY,+9,+21[9]/49,idem,+21[14] | NA |
10 | 686 | 408 | 209 | 57 | 361 | 95 | 47,XX,del(3)(q25) or del(3)(q21q26),+mar | NA |
11 | 54 | 163 | 50 | 1 | 212 | 145 | 46,XX,t(6;11)(q27;q23)[36] | NN |
12 | 217 | 174 | 73 | 10 | 327 | 224 | 53,XY,+6,+8,+9,t(11;16)(q23;p13),+13,+14,+19,+21[15] | NN |
13 | 227 | 694 | 88 | 3 | 855 | 269 | 46,XX | NA |
14 | 120 | 380 | 85 | 6 | 527 | 289 | 46,XX,t(6;11)(q27;q23)[28] | NN |
15 | 94 | 494 | 119 | 4 | 680 | 437 | 46,XY[30] | NA |
16 | 183 | 1013 | 136 | 30 | 628 | 934 | 47,XY,+?8(9%)/46,XY | NA |
17 | 54 | 3 | 2 | 5 | 2185 | 1048 | 46,XY,t(3;21)(q26;q22),del(12)(p12p13)[20] | ND |
18 | 13 | 132 | 7 | 0,0 | 21 | 0,2 | 46,XY[38] | inv(3) |
19 | 21 | 89 | 11 | 0,5 | 90 | 24 | 46,XY,?der(11)(q2?)[3]/46,XY[18] | NN |
20 | 14 | 67 | 16 | 0,5 | 21 | 32 | 46,XY,inv(3)(q21q26)[32] | inv(3) |
21 | 26 | 99 | 27 | 1 | 135 | 86 | 46,XY,t(11;19)(q23;p13.1)[15]/46,XY[5] | NN |
22 | 7 | 27 | 9 | 2 | 77 | 216 | NA | NA |
Cohort B | ||||||||
23 | 1624 | 1256 | 363 | 59 | 834 | 19 | 45,XX,inv(3)(q22q26),−7[29]/46,XX[1] | ND |
24 | 584 | 417 | 116 | 74 | 37 | 4 | 45,XY,inv(3)(q22q26),−7[25] | ND |
25 | 506 | 845 | 119 | 37 | 350 | 0,2 | 45,XY,inv(3)(q12q26.2),−7[20] | ND |
26 | 700 | 1121 | 161 | 76 | 244 | 0,0 | 45,XX,−7[27]/46,XX[3] | inv(3) |
27 | 214 | 1074 | 44 | 9 | 541 | 0,1 | NA | NN |
28 | 173 | 172 | 28 | 10 | 46 | 0,0 | 46,XX[68] | inv(3) |
29 | 196 | 239 | 69 | 6 | 167 | 0,0 | 46,XX,t(1;6)(p32;q24∼25),del(2)(q34)[33]/46,XX[1] | inv(3) |
30 | 829 | 1258 | 132 | 68 | 333 | 63 | NA | NA |
31 | 745 | 2354 | 147 | 23 | 1309 | 286 | 45,XY,−7,t(9;11)(p21;q23)[33] | NN |
32 | 315 | 641 | 174 | 9 | 2532 | 532 | 46,XX,t(11;19)(q23;p13)[21] | NN |
33 | 207 | 186 | 118 | 5 | 373 | 168 | 46,XY,t(9;22)(q34;q11)[22] | NN |
34 | 192 | 897 | 112 | 8 | 3266 | 539 | 46,XX,t(2;9;11)(p13;p22;q23)[20] | NA |
35 | 83 | 306 | 43 | 3 | 517 | 448 | 46,XY[40] | NN |
36 | 79 | 67 | 36 | 3 | 204 | 1065 | 46,XX,del(7)(q22)[41]/46,XX[1] | NN |
37 | 52 | 157 | 27 | 0,9 | 605 | 429 | 46,XY,t(6;11)(q25;q23)[22] | NN |
38 | 14 | 7 | 6 | 0,1 | 95 | 139 | 47,XY,+13[11]/46,XY[28] | NN |
39 | 16 | 39 | 9 | 0,9 | 33 | 223 | 45,XY,−7,t(7;8)(q22;p11)[21] | NN |
40 | 11 | 6 | 6 | 1,7 | 144 | 397 | 47,XX,+13[27]/46,XX[1] | NN |
41 | 14 | 13 | 5 | 2,8 | 234 | 1830 | 46,XY,−7,add(12)(p12),+mar[46]/46,XY[54] | NN |
No. . | 1D . | 1A . | 1B . | 1C . | 3L . | ME . | Karyotype (ISCN 1995) . | FISH . |
---|---|---|---|---|---|---|---|---|
Cohort A | ||||||||
1 | 850 | 1634 | 199 | 80 | 819 | 0,1 | 45,XY,inv(3)(p12p2?4),−7[16]/46,XY[8] | inv(3) |
2 | 540 | 2159 | 75 | 73 | 157 | 0,2 | 45,XY,t(3;3)(q21;q26),−7[20] | ND |
3 | 254 | 1473 | 42 | 6 | 479 | 0,1 | 46,XY,t(3;3)(q21;q26)[51] | ND |
4 | 265 | 1405 | 67 | 58 | 76 | 0,0 | 45,XX,−7[24] | inv(3) |
5 | 352 | 88 | 33 | 4 | 65 | 0,5 | 47,XX,del(5)(q23q34),+del(21)(q21q22)[4]/47,idem,t(2;3)(p2?2;q2?7)[20]/46,XX[3] | t(2;3) |
6 | 796 | 943 | 160 | 225 | 131 | 3 | 45,XY,inv(3)(q21q26.2),−7[13] | ND |
7 | 68 | 74 | 47 | 5 | 43 | 8 | 45,XY,−7[16] | inv(3) |
8 | 166 | 177 | 42 | 5 | 43 | 25 | 46,XY[14] | NA |
9 | 50 | 84 | 21 | 3 | 137 | 89 | 48,XY,+9,+21[9]/49,idem,+21[14] | NA |
10 | 686 | 408 | 209 | 57 | 361 | 95 | 47,XX,del(3)(q25) or del(3)(q21q26),+mar | NA |
11 | 54 | 163 | 50 | 1 | 212 | 145 | 46,XX,t(6;11)(q27;q23)[36] | NN |
12 | 217 | 174 | 73 | 10 | 327 | 224 | 53,XY,+6,+8,+9,t(11;16)(q23;p13),+13,+14,+19,+21[15] | NN |
13 | 227 | 694 | 88 | 3 | 855 | 269 | 46,XX | NA |
14 | 120 | 380 | 85 | 6 | 527 | 289 | 46,XX,t(6;11)(q27;q23)[28] | NN |
15 | 94 | 494 | 119 | 4 | 680 | 437 | 46,XY[30] | NA |
16 | 183 | 1013 | 136 | 30 | 628 | 934 | 47,XY,+?8(9%)/46,XY | NA |
17 | 54 | 3 | 2 | 5 | 2185 | 1048 | 46,XY,t(3;21)(q26;q22),del(12)(p12p13)[20] | ND |
18 | 13 | 132 | 7 | 0,0 | 21 | 0,2 | 46,XY[38] | inv(3) |
19 | 21 | 89 | 11 | 0,5 | 90 | 24 | 46,XY,?der(11)(q2?)[3]/46,XY[18] | NN |
20 | 14 | 67 | 16 | 0,5 | 21 | 32 | 46,XY,inv(3)(q21q26)[32] | inv(3) |
21 | 26 | 99 | 27 | 1 | 135 | 86 | 46,XY,t(11;19)(q23;p13.1)[15]/46,XY[5] | NN |
22 | 7 | 27 | 9 | 2 | 77 | 216 | NA | NA |
Cohort B | ||||||||
23 | 1624 | 1256 | 363 | 59 | 834 | 19 | 45,XX,inv(3)(q22q26),−7[29]/46,XX[1] | ND |
24 | 584 | 417 | 116 | 74 | 37 | 4 | 45,XY,inv(3)(q22q26),−7[25] | ND |
25 | 506 | 845 | 119 | 37 | 350 | 0,2 | 45,XY,inv(3)(q12q26.2),−7[20] | ND |
26 | 700 | 1121 | 161 | 76 | 244 | 0,0 | 45,XX,−7[27]/46,XX[3] | inv(3) |
27 | 214 | 1074 | 44 | 9 | 541 | 0,1 | NA | NN |
28 | 173 | 172 | 28 | 10 | 46 | 0,0 | 46,XX[68] | inv(3) |
29 | 196 | 239 | 69 | 6 | 167 | 0,0 | 46,XX,t(1;6)(p32;q24∼25),del(2)(q34)[33]/46,XX[1] | inv(3) |
30 | 829 | 1258 | 132 | 68 | 333 | 63 | NA | NA |
31 | 745 | 2354 | 147 | 23 | 1309 | 286 | 45,XY,−7,t(9;11)(p21;q23)[33] | NN |
32 | 315 | 641 | 174 | 9 | 2532 | 532 | 46,XX,t(11;19)(q23;p13)[21] | NN |
33 | 207 | 186 | 118 | 5 | 373 | 168 | 46,XY,t(9;22)(q34;q11)[22] | NN |
34 | 192 | 897 | 112 | 8 | 3266 | 539 | 46,XX,t(2;9;11)(p13;p22;q23)[20] | NA |
35 | 83 | 306 | 43 | 3 | 517 | 448 | 46,XY[40] | NN |
36 | 79 | 67 | 36 | 3 | 204 | 1065 | 46,XX,del(7)(q22)[41]/46,XX[1] | NN |
37 | 52 | 157 | 27 | 0,9 | 605 | 429 | 46,XY,t(6;11)(q25;q23)[22] | NN |
38 | 14 | 7 | 6 | 0,1 | 95 | 139 | 47,XY,+13[11]/46,XY[28] | NN |
39 | 16 | 39 | 9 | 0,9 | 33 | 223 | 45,XY,−7,t(7;8)(q22;p11)[21] | NN |
40 | 11 | 6 | 6 | 1,7 | 144 | 397 | 47,XX,+13[27]/46,XX[1] | NN |
41 | 14 | 13 | 5 | 2,8 | 234 | 1830 | 46,XY,−7,add(12)(p12),+mar[46]/46,XY[54] | NN |
Relative expression of each of the distinct EVI1 transcripts was determined as explained in “Real-time quantitative PCR and Northern blot analysis.” A positive EVI1 or ME signal (ie, >30) is indicated by italics.
ME indicates MDS1/EVI1; ISCN, International System for Human Cytogenetic Nomenclature; FISH, fluorescent in situ hybridization; NN, normal 3q21, 3q26, and 3q telomere locus; inv(3), inversion of chromosomal band 3q21 and 3q26; NA, not available; NN, normal at the 3q21, 3q26, and 3q telomere locus as determined by FISH; and ND, not determined.