Cytogenetic profile of a large cohort of Tunisian de novo acute myeloid leukemia

Figures & data

Table 1. Classification of AML patients within age groups by sex, ploidy, complexity and chromosome abnormalities

Category	Total, no (%)	Age ⩽15 years, no. (% of total)	Age >15 years, no. (% of total)
Sex
Male	353 (56)	50 (8)	303 (48)
Female	278 (44)	47 (7·4)	231 (36·6)
Total	631	97	534
Ploidy
Diploidy	234 (37·1)	22 (3·3)	212 (33·4)
Pseudodiploidy	250 (39·6)	50 (8)	200 (31·6)
Hypodiploidy	55 (8·7)	10 (1·6)	45 (7·1)
Hyperdiploidy	90 (14·3)	15 (2·4)	75 (11·9)
Tetraploidy	2 (0·3)	0 (0)	2 (0·3)
Complexity
Normal	234 (37·1)	22 (3·5)	212 (33·6)
<3 changes	329 (52·1)	63 (10)	266 (42·1)
⩾3 changes	68 (10·8)	12 (2)	56 (8·8)
Gain or loss of genetic materials
−5/del(5q)	14 (2·2)	2 (0·3)	12 (1·9)
−7/del(7q)	19 (3)	4 (0·6)	15 (2·4)
+8	44 (7)	8 (1·3)	36 (5·7)
11q23 rearrangements	24 (3·8)	4 (0·6)	20 (3·2)
Balanced abnormalities
T(8;21)	78 (12·2)	18 (2·8)	60 (9·4)
T(15;17)	83 (13·2)	16 (2·6)	67 (10·6)
Inv(16)(p13q22)	22 (3·5)	3 (0·5)	19 (3)
Other	107 (17)	17 (2·7)	90 (14·3)

Table 2. Distribution of sole and combination anomalies among specific karyotypes

Cytogenetic abnormality	Sole (%)	In combination (%)
T(8;21)	33 (42·8)	44 (57·2)
T(15;17)	63 (75·9)	20 (24·1)
Inv(16)	12 (54·5)	10 (45·5)
11q23	12 (50)	12 (50)
−5/del(5q)	2 (14·3)	12 (85·7)
−7/del(7q)	3 (15·8)	16 (84·2)
+8	17 (38·6)	27 (61·4)

Table 3. Rare and novel abnormalities observed in this study

Cytogenetic abnormality	FAB	Age	Sex
46,XY,del(9)(q13q31)8	LAM	40	M
46,XY,del(9)(q13q33),t(15;17)(q22;q21)14	LAM3	51	M
46,XY,del(9)(q13q22)8	LAM3	9	M
46,XY,del(9)(q22)8	LAM3	38	M
46,XY,del(9)(q13q31),der(11),−12,der(16),dic(12;16),del(17)(p12p13),+mar21	LAM4	17	M
46,XX,add(2)(q24),del(7)(q21q31),del(9)(q13q31),−11,t(15;17)(q22;q21),−20,+2xmar15	LAM3	60	F
46,XY,del(9)(p12p23)18	LAM5	16	M
46,XY,del(9)(q21q33)4	LAM5	45	M
46,XX,del(9)(q13q31),t(11;19)(q23;p13)18	LAM6	3·3	F
45,X,–Y20	LAM1	55	M
45,X,–Y,del(5)(q21),t(8;21)(q22;q22),i(9)(q10)18	LAM2	22	M
45,X,–Y,t(8;21)(q22;q22),del(11)(q14)15	LAM2	36	M
46,X,–Y,+810	LAM1	49	M
45,X,–Y,–16,add(21)(q22),del(7)(q22q36)3	LAM5	35	M
46,X,–Y,add(3)(q26),add(9)(p23),+m11	LAM5	29	M
46,X,–Y,+821	LAM1	95	M
46,XX,t(3;21)(q24;q22),t(15;17)(q22;q21)17	LAM3	29	F
46,XY,t(3;8)(p12;p22),der(5)	LAM3	17	M
46,XY,t(3;6)(q25;q23),t(15;17)(q22;q21)20	LAM3	68	M
45,XY,add(2)(p24),der(3)t(3;12)(p11;q12),del(5)(q13q35),−7,−12,−17,+2xmar8	LAM5	67	M
46,XY,der(6)t(3;6)(q13;q16),t(15;17)(q22;q21)14	LAM3	10	M
46,XX,t(8;21)(q22;q22),add(19)(q13)3	LAM2	13	F
46,XY,t(7;19)(q22;p13)15	LAM2	47	M
46,XY,del(4)(q31),add(5)(p13),der(11),del(19)(p13),add(19)(p13),	LAM5	42	M
add(20)(p13),−21,+mar11
46,XY,add(19)(q13)4	LAM1	78	M
46,XY,r(5)(p14;q34)7	LAM6	40	M
46,XY,t(8;11;16;21)(q22;q11;p11;q22)17	LAM2	42	M
45,X,–X,t(2;8;21)(p23;q22;q22),del(9)(q13q22)17	LAM2	11	F
47,XY,t(6;8;21)(p22;q22;q22),+816	LAM2	50	M
46,XY,t(1;4)(q31;q31),t(6;21;8)(q22;q22;q22),del(7)(p12p21)9	LAM2	35	M
46,XX,t(11;15)(q25;q12)t(1;17)(q22;q21),add(2)(q36),add(15)(p11)	LAM3	36	F
der(15)t(15;17)7
46,XX,t(8;17;15)(q21;q21;q22)16	LAM3	40	F
46,XY,t(15;1;17)(q22;q12;q21)14	LAM3	34	M
46,XY,t(2;6)(q21;q27)4	LAM1	2·5	M
46,XX,t(2;12)(q31;p13)3	LAM1	79	M
46,XY,t(2;7)(q11;q21),t(8;21)(q22;q22)2	LAM2	35	M
46,XY,t(12;22)(p13;q12),del(5)(q31q34)8	LAM2	68	M
46,XY,t(13;14)(q10;q10)11	LAM5	41	M
46,XX,t(2;9)(q31;q33)14	LAM2	24	F
46,XY,del(3)(q13),t(5;17)(q21;q12),add(12)(p13)18	LAM3	50	M
45,XY,der(7),t(7;12)(q10;q10),–1220	LAM4	35	M
46,XY,t(2;16)(q23;p13),add(15)(q26)11	LAM4	49	M
46,XX,+8,t(9;11)(p22;q23),add(16)(q24)17	LAM5	13	F
46,XX,t(2;9)(p21;p13)3	LAM5	18	F
45,XY,der(7),t(7;9)(p13;q12),–911	LAM5	18	M
46,XY,t(9;11;12)(q34;q12;p13)5	LAM5	18	M
49,XY,t(2;10)(q32;p12),–17,+2×21,+2×225	LAM5	6	M
46,XY,t(7;10;11)(q36;q22;p11)15	LAM7	6	M
47,XX,+4,t(10;11)(p13;q21)13	LAM6	28	F
46,XY,t(17;17)(q12;q25)3	LAM3	70	M
46,XY,t(2;14)(q21;q32)12	LAM1	52	M
44,XY,–5,inv(11),t(12;?),–13,–14,–16,–21,der(5)t(5;?),+der(14)t(14;?),+der(16)t(16;?)16	LAM6	68	M
46,XY,der(10)t(10;?)(q23;?)15	LAM4	68	M
46,XY,t(7;12)(q11;p13)13	LAM2	22	M
42,XY,del(5)(q14q34),der(6)t(6;8)(p21;q23),–7,ins(8;6)(q13;p21),der(12)t(20;12;17)(q11;p13;?),der(14)t(14;16)	LAM4	33	M
(q10;q10)–16,–17,–2016
46,XX,del(7)(q21),+8,der(9)t(9;12)(q10;q10),–1213	LAM5	40	F
46,XX,t(8;21)(q22;q22),add(7)(q31)13	LAM1	13	F
46,XY,add(20)(p13)10	LAM6	63	M
46,X?add(X)(q27),del(8)(q22)20	LAM1	64	F
46,XY,del(13)(q21q22)14	LAM5	53	M
46,XY,add(4)(q34),der(21)7	LAM1	36	M
46,XX,t(8;21)(q22;q22),del(11)(q13),add(17)(q21)17	LAM1	13	F
46,XY,del(1)(p13p31),add(1)(q24),del(14)(q21q31)12	LAM1	22	M
46,XX,add(10)(p14),–11,add(11)(q24),add(12)(p13),–1912	LAM1	2	F
46,XX,add(2)(q37),del(11)(q13),–12,–16,+2xmar4	LAM1	1·10	F
46,XX,der(8),add(8)(p23),del(8)(q11q13),add(18)(p11)7	LAM1	1	F
47,XY,+8,del(15)(q21q265	LAM2	9	M
42,XY,add(1)(q43),del(1)(q24),–5,del(7)(q31),–9,–10,del(11)(p13),–12,–14,–17,–18,–19,–20,+2xmar16	LAM5	71	M
46,XX,add(2)(p24),del(3)(p21)14	LAM1	70	F
47,XY,add(6)(p22),t(15;17)(q22;q21),del(10)(q24)3	LAM3	39	M
46,XX,t(15;17)(q22;q21),add(5)(p15)10	LAM3	53	F
44,XY,–5,–6,add(7)(q11),add(12)(q21),–13,del(13)(q21q22),idic(17)(p12),+2xmar14	LAM3	51	M
46,XX,t(15;17)(q22;q21),add(8)(p23)10	LAM3	58	F
45,XY,–7,add(18)(p11)20	LAM4	23	M
56,XY,+4,del(6)(q21q24)x2,+14,+16,+18,+19,+20×29	LAM4	44	M
46,XY,del(5)(q14q34),add(20)(p13)7	LAM4	25	M
42,XY,add(2)(q33),–5,add(7)(p21),–14,–16,–17×2,–18×2,–20,–21×2,–22,+7,mar14	LAM4	41	M
46,XY,del(16)(q22)17	LAM4	70	M
46,XX,inv(2)(q22q11)9	LAM4	8	F
45,XY,del(5)(q13q33)?–11,del(11),der(13)(14)(q10;q10),+m1,+m23	LAM5	35	M
46,XX,dup(1)(q11q21),–2, der(7p),add(14)(q34),+m14	LAM5	62	F
43,XX,–4,–5,del(7)(q21q32),add(11)(q23),–12,add(17)(q22),–18,+mar16	LAM5	57	F
46,XX,+11,–13,add(14)(q31)9	LAM5	13	F
46,XX,del(1)(q32q44),t(15;17)(q22;q21)16	LAM3	38	F
45,XX,–8,+mar3	LAM1	42	F
45,XX,–1,del(4)(q21),–6,–7,–17,+3xmar12	LAM6	43	F
45,XY,del(5)(q21q34),del(7)(q21q35),add(11)(p13),–174	LAM5	49	M
46,XYdel(1)(p12p35)20	LAM5	46	M
43,XX,add(2)(p25),del(3)(q24),del(7)(q21),add(8)(q24),–12,–14,add(15)(p11),–17,add(19)(p12),–19,+219	LAM7	63	F
46,XX,del(5)(q22q35),der(6),add(6)(p22),add(6)(q21),add(13)(q13)15	LAM5	34	F
46,XX,add(7)(p22)14	LAM5	68	F
45,XX,add(3)(p23),del(5)(q13q33),–7,del(11)(q23),–18,–19,–20,+3xmar16	LAM6	53	F
47,XY,+4,del(5)(q13q33),add(7)(q31),+8,del(15)(q15),+add(16)(p13)4	LAM3	67	M
46,XX,del(11)(p13)3	LAM5	60	F
46,XX,add(5)(q13),del(6)(q14q24),add(7)(q11),add(10)(p14)11	LAM6	17	F
43,XY,–5,add(7)(q22),–15,–17,add(20)(q12),–21,+m7	LAM6	14	M
45,XX,add(5)(q15),–717	LAM6	54	F
46,XX,del(6)(q22),i(9)(q10)4	LAM6	42	F
47,XY,del(10)(p12),+114	LAM1	37	M
90,XXY,add(9)(q34)20	LAM1	46	M
47,XY,del(1)(p11p33),+87	LAM5	43	M
46,XY,add(2)(q26)3	LAM5	26	M
45,XY,–7,add(9)(p21)14	LAM1	16	M
46,XY,add(3)(p21)7	LAM5	39	M
45,XX,–2,–7,–11,–13,der(17),+3xmar11	LAM7	59	F
46,XY,inv(13)(q13q22)17	LAM7	4	M
43,XY,–5,–6×2,add(11)(p13),del(13)(q21q22),–17,–18,+m1,+m220	LAM5	63	M

Table 4. Comparison of the karyotype patterns of the Tunisian AML patients with others from different geographic areas

	This study, Tunisia	Oman 2007	Singapore 2004	USA (2002)13	UK 2006	Spain 2006	Japan	Australia	Germany 2005	China 2009	Morocco 1996	Tunisia 2002
Total	631	63	454	1311	1709	1129	438	230	2460	1432	53	139
Median age	37 (0·08–95)	25 (4–75)	49 (15–100)	52 (15–86)	65 (16–99)	61 (1–94)	51 (16–91)	51 (16–86)	NA (16–90)	42 (4–84)	22 (2–70)	32 (1–75)
Most frequent	37·1	38	39	44	45	36·5	NA	NA	58·2	42·3	33	45
aberrations (%)
Normal
T(15;17)	13·1	10	11	7	8	14·8	11·2	11·7	NA	14·3	NA	9
T(8;21)	12·3	11	7·5	6	4	2·7	13·2	5·2	4·3	8·3	23	19
Inv(16)(p13q22)	3·4	3	1·1	7	2	2·7	2·7	6			4	3
11q23 rearrangements	3·8	2	2·4	4	1	3·3	2·2	2·6	2·7	1·2	6	2
−5/del(5q)	2·2	6	6·6	7	11	9·1	NA	NA	1·7	0·8	NA	1
−7/del(7q)	3	5	7	7	5	8·6	NA	NA	2·6	1·4	NA	5
+8	7	6	7·3	9	6	11·4	NA	NA	6·7	3·8	NA	5

NA: Not available.

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