Page 76 - 2019_02-Haematologica-web

E.K.M. Mack et al.
Table 1. Patients’ samples and karyotypes.
Pat. ID
AML-11
AML-2
AML-3
AML-42
AML-5 AML-63 ML-7
AML-8 AML-9 AML-10
AML-11a
AML-11b AML-124
AML-13 AML-14
AML-15
AML-16
AML-17
Age FAB Sample Blasts Blasts type (Cyto) (FACS)
Reference karyotype
45,XX,
+der(1)t(1;11)(q21;q13); del(5)(q13q33), del(7)(q22q36), -17,del(17)(p12)[26]
FISH: partial trisomy 1 (1p), trisomy 11q
45,Y,-X, del(5)(q15q31), del(9)(p24p22), del(17)(p13p11.2), -20,
+mar [10]; 46,XY,idem, del(7)(q22q36)[11]
46-49,XX,+X,+X der(3)t(3;17)(p12;?), del(5)(q13q33), +del(5)(q13q33), der(7)t(3;7)(?;p22),
+10, der(11)amp(11q)t(11;20), der(17;22)(q10;q10), -18, der(20)t(20;22)[cp15]
n.a
46,XX,t(6;11)(q27;q23)[19]; 46,XX[1] n.a
46,XX,t(X;16)(p11;q21)[19]; 46,XX [1]
46,XX [15]
46,XY[20]
46,XX,
der(10)t(10;11)(p12;q13) inv(11)(q13q23), der(11)t(10;11)(p12;q13) [20]; nuc ish 11q23(5'MLLx2,3'MLLx2) (5'MLL sep 3'MLLx1) [60],
nuc ish 11q23(5'MLLx2,3'MLLx2) (5'MLL sep 3'MLLx0) [40]
46,XX,
t(8;21)(q22;q22) [4];
47,XX, +4, t(8;21)(q22;q22)[2]
n.a n.a
46,XY, inv(16)(p13q22)[20]
n.a.
(female pat. after allo-HSCT
from male donor; chimerism 100%)
n.a
(NPM1_A, FLT3-ITD)
46,XX,t(8;21)(q22;q22) [6], 45,X,-X,t(8;21)(q22;q22) [12], 46,XX [2]
46,XX [21]
CNV karyotype
47,XX, add(1)(p36.32p21.3), del(5)(q14.3q34), del(7)(q22.1q36.3), +11, del(15)(q11.2q25.1), del(17)(p13.3p11.2), del(17)(q11.1q21.33)
46,XY, del(5)(q14.3q35.3), add(8)(q24), del(9)(p22.1p21.2), del(17)(p13.3p11.1), del(20)(q11.22q13.33)
47,XX,+X, del(3)(p21.33p14.3), del(5)(q14.3q34), add(11)(q13.4q25), del(17)(p13.3p13.1), -18, der(20)del(p12.3p12.1) add(p11.23q11.22) del(q11.23q13.31), +22
46,XX,
del(7)(q11.22q36.3) 46,XX
46,XX
46,XX
46,XX 46,XY 46,XX
47,XX,+4
47,XX,+4
46,XY, del(7)(q21.1q36.1), add(13)(q11q14.2)
46,XX 46,XY
46,XY
45,X,-X
46,XX
Total reads
4,994,165
1,290,882
4,974,979
1,537,585
2,078,039 2,079,920 2,652,806
1,180,039 1,980,007 1,741,918
1,722,984
1,690,417 1,798,644
2,170,329 1,627,409
1,622,690
2,053,046
2,394,150
Mappable reads
3,958,833
1,026,834
3,840,179
1,216,416
1,634,883 1,646,231 2,113,075
933,365 1,554,048 1,379,261
1,363,640
1,339,197 1,408,808
1,699,480 1,273,816
1,274,059
1,629,435
1,886,189
68 M2 BM
19 M2 BM (after
ALL)
71 M6 BM
53 M2 PB
34 M4 BM 36 M4 PB 82 M5 BM
57 M0 BM 65 M1 PB 61 M2 BM
74 M4 BM
74 M4 PB 72 M5 BM
43 M4eo PB
53 M5a PB (t-AML)
70 M2 BM
58 M2 BM
52 M1/ BM M4/
n.a. n.a.
90% n.a.
60% 26%
100% CD34
-pos. fraction >90% 47% n.a. 30% 30% 40%
80% 83% 90% 86% 80% 91%
65% 76%
90% 20% 30% 20%
59% 44% n.a. n.a.
90% 98%
50% 60%
n.a 51%
M2
continued on the next page
280
haematologica | 2019; 104(2)