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Table 1 In situ hybridization, microarray and cytogenetic data of the patients

From: Microarray-based genomic profiling and in situ hybridization on fibrotic bone marrow biopsies for the identification of numerical chromosomal abnormalities in myelodysplastic syndrome

Group

Patient ID

Sex

Age (years)

Diagnosis

Fibrosis

FISH (BM biopsy)

Array based karyotype (BM biopsy)

Karyotype (BM aspirate)

1

4902

M

63

RCMD

no

not done

del(16)(q11q23)

46,XY,del(16)(q11q23)[4]/46,XY[6]

 

4519

F

59

AML

no

loss 7 (44%)

del(3)(p24p22),del(3)(p14p12),del(4)(p15),dup(5)(p11),del(5)(q11q35),del(7)(p14p11), del (7)(q11q26),del(10) (q11q24),del(10)(q25q26),dup(22)(q11)

45,XX,del(5)(q13q33),-7[4]/46,XX[16]

 

4898

F

42

RCMD

no

loss 7 (50%)

−7,+21,+22

45,XX,-7[4]/47,sl,+21,+22[5]/46,XX[1]

 

4893

M

80

RAEB-1

no

trisomy 8 (50%)

+8

47,XY,+8[10]

 

4895

F

59

RCMD-RS

no

trisomy 8 (23%)

+8

47,XX,+8[6]/46,XX[4]

 

4896

M

72

RCMD

no

loss 8 (47%) loss 7 (50%)

del(5)(q21q31),-7

44,XY,del(5)(q15q33),-7,dic(15;17)(p11;p11),-18,der(21;22)(q10;q10),+2mar[cp8]/46,XY[2]

 

4912

M

64

RAEB-2

no

not done

+8,+21

47,XY,+21[1]/48,sl,+8[9]

2

4522

M

57

RCMD

grade 3

loss 20q (32%) trisomy 8 (18%)

del(3)(p24q25),del(5)(q14q34),del(6)(p24q16), del(7)(q11q32),+8,del (20)(q11)

40~44,XY,-5,-6,-7,+8,-20,+4mar[cp7]/46,XY[3]

 

4894

M

67

RCMD

grade 2

loss 20q (77%)

del(20)(q11q13)

46,XY,del(20)(q13)[10]

 

4899

M

58

RAEB

grade 3

not done

del(2)(p23),del(4)(p12),del(4)(q12q13.2), del(5)(q14q35),del(7) (q21q36),del(12)(p12p13),del(20)(q11q13)

44~47,XY,-2,-2,-4,del(4)(q31),-5,-7,add(9)(q34),add(12)(p13),−13,-15,-16,-17,add(17)(p13),del(20)(q11),+3~7mar[cp8]/46,XY[2]

 

4903

M

58

AML

patchy fibrosis

faillure

no CNA

44~47,XY,-2,-2,-4,-4,+6,-7,-9,-10,-13,-13,-17,add(17)(p13),−19,del(20)(q11),+21,+21,+4~8mar[cp8]/46,XY[2]

 

4523

F

58

RAEB-2

grade 3

loss 7 (46%) loss 5 (29%)

del(5)(q14q33),-7

45,XX,t(4;17;20)(q31;q12;q13),del(5)(q13q33),-7[10]

 

4520

M

70

RAEB-2

grade 3

loss 7 (61%) loss 5 (40%)

-Y,del(5)(q11q34),-7,del(17)(p13),-18

42~44,X,-Y,-5,-7,+?12,-13,add(17)(p13),-20,-21,+3mar[cp13]

 

4521

F

59

RCMD

grade 2

loss 5q (19%)

del(4)(q24q26),del(5)(q13q35),del(6)(q11q21), del(7)(q11),del (17)(p13.1p13.3)

45~46,XX,add(1)(q32),del(5)(q?22q33),del(6)(p22),add(7)(q11),-10,-13,del(17)(p11),+2~3mar[cp10]

3

4904

F

60

RAEB-2

no

not done

no CNA

46,XX[20]

 

4906

F

64

vit. B12 deficiency

no

not done

no CNA

46,XX[23]

 

4897

M

71

hypoplastic AML

no

not done

no CNA

46,XY[20]

 

4518

F

45

pure red cell aplasia

no

loss 7q (34%)

no CNA

46,XX[20]

 

4890

M

58

RCMD

no

not done

no CNA

46,XY[20]

 

4892

F

63

RCMD-RS

no

not done

no CNA

46,XX,t(3;3)(q21;q26)[11]

 

4900

F

63

RAEB-1

no

not done

no CNA

46,XX[20]

  1. RCMD = refractory cytopenia with multi lineage dysplasia, RAEB = refractory anemia with excess of blasts, RCMD-RS = RCMD with ringsideroblasts, AML = acute myeloid leukemia, no CNA = no copy number abnormality, BM = bone marrow.