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dup(1)(q11-q44) in myeloid malignancies

Written2016-06Adriana Zamecnikova, Soad al Bahar
Kuwait Cancer Control Center, Department of Hematology, Laboratory of Cancer Genetics, Kuwait; annaadria@yahoo.com

Abstract Review on dup(1)(q11-q44) in myeloid malignancies, with data on clinics

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Identity

ICD-Topo C420,C421,C424
ICD-Morpho 9975/3 Chronic myelogenous leukaemia, BCR-ABL1 positive; Myeloproliferative neoplasm, unclassifiable; Myelodysplastic/myeloproliferative neoplasm, unclassifiable
ICD-Morpho 9950/3 Polycythaemia vera
ICD-Morpho 9962/3 Essential thrombocythaemia
ICD-Morpho 9961/3 Primary myelofibrosis
ICD-Morpho 9945/3 Chronic myelomonocytic leukaemia
ICD-Morpho 9983/3 Refractory anaemia with excess blasts
ICD-Morpho 9985/3 Refractory cytopenia with multilineage dysplasia; Refractory cytopenia of childhood
ICD-Morpho 9975/3 Chronic myelogenous leukaemia, BCR-ABL1 positive; Myeloproliferative neoplasm, unclassifiable; Myelodysplastic/myeloproliferative neoplasm, unclassifiable
ICD-Morpho 9989/3 Myelodysplastic syndrome, unclassifiable
ICD-Morpho 9920/3 Therapy-related myeloid neoplasms
ICD-Morpho 9896/3 AML with t(8;21)(q22;q22); RUNX1-RUNX1T1
ICD-Morpho 9866/3 Acute promyelocytic leukaemia with t(15;17)(q22;q12); PML-RARA
ICD-Morpho 9865/3 AML with t(6;9)(p23;q34); DEK-NUP214v AML with inv(3)(q21q26.2) or t(3;3)(q21;q26.2);RPN1-EVI1
ICD-Morpho 9861/3 AML with mutated NPM1; AML with mutated CEBPA; Acute myeloid leukaemia, NOS
Atlas_Id 1443

Clinics and Pathology

Disease Myelodysplastic/myeloproliferative neoplasms (MDS/MPN) and acute myeloid leukemia (AML).
Phenotype / cell stem origin Chronic myeloproliferative disorder in 58 cases and AML in 52 patients.
Chronic myeloproliferative neoplasms: 5 polycythemia vera (PV) (Carbonell et al., 1983; Mamaeva et al., 1983; Rege-Cambrin et al., 1987; Jarosova et al., 1988), 3 essential thrombocythemia (ET) (Knuutila et al., 1983; Richard et al., 1987; Lofvenberg et al., 1990), 10 myelofibrosis (MF) (Schmid and Kohler., 1984; Lawler and Swansbury.,1985; Akahoshi et al., 1987; Fonatsch and Gradl., 1988; Lofvenberg et al., 1990; Andrieux et al., 2003), among them 4 with post-PV myelofibrosis (Andrieux et al 2003) and 2 after therapy for a previous malignancy (Lawler and Swansbury., 1985; Akahoshi et al., 1987). There were 2 chronic myelomonocytic leukemia (CMMoL) (Fonatsch et al., 1991; Trakhtenbrot et al., 2010) cases and 2 patients with unspecified chronic myeloproliferative disorders (Haubenstock et al., 1985; Kerman et al., 1986).
Myelodysplastic syndrome: 25 patients (Anderson and Bagby., 1982; Papenhausen et al., 1984; Yunis et al., 1986; Palmer et al., 1987; Fonatsch et al., 1991; Kanamaru and Tamura., 1993; Ohyashiki et al., 1994; Tien et al., 1994; Satake et al., 1997; Alter et al., 2000; de Souza Fernandez et al., 2000; Kearns et al., 2004; Alfaro et al., 2008; Bacher et al., 2009; Vundinti et al., 2010; Kolquist et al., 2011; Quentin et al., 2011), 8 of them with Fanconi anemia (FA) (Alter et al 2000; Vundinti et al 2010; Quentin et al., 2011).
Chronic myeloid leukemia (CML) was diagnosed in 11 patients (Kohno and Sandberg., 1980; Smadja et al., 1984; Hild and Fonatsch., 1990; Gozzetti et al., 2003; Herens et al., 2003; Lee et al., 2003; Schoch et al., 2003; Abruzzese et al., 2007; Palandri et al., 2009; Sun et al., 2011; Fabarius et al., 2011). In 8 patients dup(1q) was found in association with t(9;22)(q34;q11) (Kohno and Sandberg 1980; Smadja et al., 1984; Hild and Fonatsch., 1990; Lee et al., 2003; Schoch et al., 2003; Palandri et al., 2009; Sun et al., 2011; Fabarius et al., 2011) and it was detected in a Ph-negative clone while on imatinib therapy in 3 patients (Gozzetti et al., 2003; Herens et al., 2003; Abruzzese et al., 2007).
Acute myeloid leukemia: There were 53 patients diagnosed with various forms of AML: 1 AML-M0 (Angelova et al., 2015), 4 AML-M1 (Pui et al., 1990; Tanaka et al., 1997; Taylor et al., 2000; Jekarl et al., 2010), 9 AML-M2 (CG et al., 1988; Tien et al., 1988; Kobayashi et al., 1990; Stuppia et al., 1990; Kudoh et al., 1995; Tamura et al., 1998; Lee et al., 2004; Kim et al., 2009; Beach et al., 2012), 3 AML-M3 (Berger et al., 1988; Cuneo et al 1992; Batzios et al., 2009), 7 AML-M4 (Haas et al., 1985; Misawa et al., 1988; Raynaud et al., 1994; Hda et al., 1996; Forestier et al., 2003; Schmidt et al., 2004; Bao et al., 2006), 5 AML-M5 (Orazi et al., 1988; Soekarman et al., 1992; Harrison et al., 1998; Panagopoulos et al., 2000; Gmidene et al., 2012), 2 AML-M6 (Cuneo et al., 1990; Creutzig et al., 1996), 5 AML-M7 (Shikano et al., 1995; Creutzig et al., 1996; Alvarez et al., 2001; Strehl et al., 2001; Lundin et al., 2012) and 16 AML unspecified cases (Nacheva et al., 1982; Ghaddar et al.,1994; Nacheva et al., 1995; Kolstad et al., 1996; Pallisgaard et al., 1998; Raimondi et al., 1999; Alter et al., 2000; Blann et al., 2000; de Souza Fernandez et al., 2000; Clavio et al., 2001; Seiter et al., 2001; Kern et al., 2002; Oliveira et al., 2002; Quentin et al., 2011). Patient's characteristics are reported in Table 1.
Epidemiology At least 110 reported cases in myeloid malignancies (63 males and 47 females, aged 0 to 84 years; median 45 years); male prevalence in chronic myeloid neoplasms (35M/23F, aged 1 to 84 years; median 51 years); balanced sex ratio in AML (28M/24F aged 0 to 72 years; median 33 years). There were 20 pediatric cases (9M/11F; <16 years), mainly with AML (16 out of 20 cases)(Satake et al., 1997; Vunditi et al., 2010; Quentin et al., 2011; Nacheva et al., 1982; de Alarcon et al., 1987; Orazi et al.,1988; Tien et al.,1988; Pui et al., 1990; Shikano et al., 1995; Creutzig et al., 1996; Harrison et al., 1998; Blann et al., 2000; Taylor et al., 2000; Alvarez et al., 2001; Strehl et al., 2001; Oliveira et al., 2002; Forestier et al., 2003; Lundin et al., 2012). 4 of the pediatric cases were infants (<1 years, 2M/2F) (Nacheva et al., 1982; Satake et al., 1997; Harrison et al., 1998; Strehl et al., 2001) and there were 6 children with AML and Down syndrome (1M/5F, aged 1 to 3 years old) (de Alarcon et al 1987; Creutzig et al., 1996; Blann et al., 2000; Alvarez et al., 2001; Strehl et al., 2001; Lundin et al., 2012). There seems to be an over-representation (10%) of Fanconi anemia (FA) patients (8M/3F, aged 5 to 32 years) (Alter et al., 2000; Oliveira et al., 2002; Vundinti et al., 2010; Quentin et al., 2011), probably reflecting genetic predisposition to develop bone marrow failure or acute myeloid leukemia in these patients.
There were 8 therapy-related myeloid malignancies developing in patients after cytotoxic and/or radiation therapy for the primary disease: 3 MPN (Lawler and Swansbury1985; Haubenstock et al., 1985; Akahoshi et al., 1987) and 5 AML (Orazi et al., 1988; Pui et al., 1990; Tanaka et al., 1997; Taylor et al., 2000; Schmidt et al., 2004). Also, there was an emergence of cytogenetically abnormal clones with dup(1q) in Ph-negative cell population in CML (Herens et al., 2003; Gozzetti et al., 2003; Abruzzese et al., 2007) and AML patients while on complete remission (Raynaud et al., 1994; Kudoh et al., 1995; Seiter et al., 2001; Batzios et al., 2009., Beach et al., 2012). Given that these patients had previously received therapy, the role of cytotoxic treatments in these cases cannot be excluded.
Table 1. Reported cases with 1q duplication involving 1q11-q44.

Sex/Age

Disease

Karyotype

 

Chronic myeloproliferative disorders

F

MDS

46,XX,dup(1)(q23q44)

1

M

PV

46,XY,dup(1)(q21q31)

2

M/36

ET

46,XY,dup(1)(q21q32)

3

F/65

PV

46,XX,dup(1)(q21q44),inv(1),inv(9)

4

M/54

MDS

47,XY,dup(1)(q21q32),+8

5

F/45

IMF

46,XX,dup(1)(q21q32)

6

F/84

CMPD

46,XX,dup(1)(q21q32)          Therapy for ovary carcinoma

7

F/39

IMF

46,XX,dup(1)(q21q32          Therapy for Hodgkin disease

8

F/69

CMPD

46,XX,dup(1)(q22q31),der(9)t(9;17)(q11;q11),inv(11),-17

9

M/59

RAEB

46,XY,dup(1)(q21q42)

10

F/60

IMF-AML

46,XX,dup(1)(q21q42),t(3;21)(q26;q22)          Therapy for breast carcinoma

11

F/29

RAEB1

46,XX,dup(1)(q11q42),dup(6)(p21p25),t(11;16)(q14;p13)

12

F/33

PV

46,XX,ins(11;4)(p14;q26q35)/46,XX,dup(1)(q21q44)

13

M/66

PV

46,XY,dup(1)(q21q44)

14

F/75

ET

46,XX,dup(1)(q11q44)

15

F/51

PV

46,XX,dup(1)(q11q44)

16

M/73

IMF

46,XY,dup(1)(q25q44)

17

F/43

IMF

47,XX,dup(1)(q11q42)

18

M/76

ET

46,XY,dup(1)(q11q42)

19

F/46

RA

46,XX,dup(1)(q21q32)

20

F/24

RA

46,XX,dup(1)(q12q42)

21

M/79

CMMoL

46,XY,dup(1)(q25q42)

22

M/24

RA

46,XY,dup(1)(q23q44)

23

M

RAEB

46,XY,dup(1)(q21q44)/47,idem,+8

24

M

RA

46,XY,dup(1)(q21q42)/92,idemx2

25

M/68

RAEB

45,X,-Y,dup(1)(q21q41)

26

M/1

RA

48,XY,+11,+21/48,idem,dup(1)(q21q42)

27

M

MDS

46,XY,dup(1)(q12-21q24),der(2)t(1;2)          FA

46,XY,der(2)t(1;2)(q21;q35-37)/46,idem,dup(1)

28

F

MDS

46,XX,dup(1)(q21q25),dup(1)(q21q42),del(7)(q31),del(11)(q21q25),add(17)(q25),der(20)t(1;20)(q10;q13)46,XX,dup(1)(q21q42),del(7),del(11),der(20)t(1;20          FA

29

M/66

RAEB

46,XY,dup(1)(q12)

30

M/71

PPMF

46,XY,dup(1)(q21q42)/46,idem,del(11)(q21q24)

31

M/66

PPMF

46,XY,dup(1)(q21q44),add(18)(p11)

32

M/77

PPMF

46,XY,dup(1)(q21q32)

33

M/64

PPMF

46,XY,der(6)t(1;6)(q21;p23)/46,XY,dup(1)(q21q42)

34

F

IMF

46,XX,dup(1)(q21q42)

35

M

MDS

46,XY,dup(1)(q41q44),del(7)(q31q35)

36

F/51

RCMD-MDS AML

46,XX,dup(1)(q21q32) / 47,XX,dup(1),+8

37

M/62

RAEB2

47,XY,+1/46,XY,dup(1)(q21q32)

38

M/58

RAEBS

46,XY,dup(1)(q32q21)

39

M/65

Post PV-CMMoL

46,XY,t(14;20;18)(q11;q11;p11)/46,idem,del(13)(q12q22)/48,XY,dup(1)(q22q23),del(20)(q11),+21,+mar

40

M/14

RAEB

46,XY,dup(1)(q12q24)          FA

41

M

MDS

46,XY,dup(1)(q21q32)x2

42

M/19

RCMD

46,XY,dup(1)(q21q42)/46,idem,der(1)t(1;3)(p36;q21)          FA

43

M/32

MDS

46,XY,dup(1)(q10q43)          FA

44

M/29

MDS

45,X,-Y,dup(1)(q24q42)          FA

45

M/9

RAEB1

46,XY,dup(1)(q21q41)/46,idem,add(11)(q22),add(19)(p13)/46,idem,del(18)(q22)          FA

46

F/7

RAEB1

46,X,add(X)(p21),dup(1)(q12q32),dup(3)(q21q26),add(5)(q33),del(7)(q21),-18,+mar          FA

47

Chronic myeloid leukemia

M/40

CML

46,XY,dup(1)(q12q31),t(9;22)

48

M/41

CML BP

46,XY,dup(1)(q25q32),t(6;19),t(9;22),der(21)t(1;21)(q21;q2?2)

49

F/31

CML

46,XX,dup(1)(q23q32),t(9;22)/46,XX,t(1;5)(q21-22;q31),t(9;22)

50

F/77

CML

46,XX,dup(1)(q11q21)          Receiving imatinib

51

F/59

CML

46,XX,dup(1)(q21q42)          Receiving imatinib

52

F/35

CML

47,XX,dup(1)(q21q44),+6,inv(9)(p11q12),t(9;22)(q34;q11)

53

M

CML BP

47,XY,dup(1)(q21q44),+8,t(9;22)          Receiving imatinib

54

M/70

CML

46,XY,dup(1)(q11q21)          Receiving imatinib

55

M

CML

45,X,-Y,dup(1)(q21q32),t(9;22)(q34;q11)

56

M/44

CML

46,XY,dup(1)(q31q21),t(9;22)(q34;q11)

57

F /33

CML BP?

46,XX,t(1;2),del(6)(q21),t(9;22)/46,XX,t(9;22),del(18)(p11)/46,XX,dup(1)(q23q32),del(4)(q21),t(9;22),t(11;12)(q23;q13),del(18)(p11),add(19)(p13)

58

Acute myeloid leukemia

M/0

AML

46,Y,der(X)t(X;11)(q22;q23)ins(X;11)(q22;p15p13),dup(1)(q11q21),der(11)t(X;11)del(11)(p12p15)

59

M/24

AML-M4

46-47,XY,dup(1)(q11q12),-7,t(9;13)(p22;q32)

60

F/2

AML

47,XX,dup(1)(q44q25),+21c          DS

61

M/52

AML-M3

46,XY,dup(1)(q11q22),t(15;17)(q22;q12)          At relapse

62

M/72

AML-M2

47,XY,del(6)(p23),+8/47,idem,dup(1)(q11q44)/47,idem,dup(1)(q21q32)

63

M/55

AML-M4

46,XY,dup(1)(q12q42

64

M/16

AML-M5b

48,XY,dup(1)(q12),+3,+9          Therapy for osteosarcoma

65

M/9

AML-M2

49,XY,dup(1)(q25q44),+7,+8,t(8;21)(q22;q22),+13,+13,-14,der(22)t(17;22)(q21;p11)

66

M/32

AML-M6

46,XY,dup(1)(q24q44),del(8)(p12),add(9)(q34),del(13)(q14q22),add(16)(p11)

67

M/64

AML-M2

47,XY,+21 / 46,XY,dup(1)(q11q42),del(20)(q11q13)

68

M/6

AML-M1

46,XY,del(1)(p32),dup(1)(q21q32),add(11)(p15)/46,XY,del(1),t(1;11)(p32;q23)          Therapy for mature B-cell neoplasm

69

M/66

AML-M2

44,X,-Y,der(1;11)t(1;11)(q10;q21),dup(1)(q24q25),-4,der(17)t(17;21)(p11;p11),-21,+2r

70

M

AML-M3

47,XY,+8,t(15;17)(q22;q21)/47,idem,dup(1)(q31q42)

71

M/67

AML-M5

45,XY,+X,dup(1)(q21q31),del(5)(q12q34),t(6;9)(q23;q34),8,add(9)(p?),del(14)(q21q31),-15

72

F/64

MDS-AML

47,XX,+8/47,idem,dup(1)(q25q42)/45,idem,+2,-5,del(6)(q21),-7,-17,-18,+mar,dmin

73

M/46

AML-M4

46,XY,dup(1)(q21q32)          At complete remission

74

M/58

AML-M2

46,XY,t(8;21)(q22;q22)/45,idem,-Y          At diagnosis

46,XY,del(11)(q14q23)/46,idem,dup(1)(q21q44)          At complete remission

75

M/23

AML

46,XY,del(20)(q11q13)/46,idem,dup(1)(q23q32),hsr(3)(q27)

76

F/2

AML-M7

47,XX,i(7)(q10),+der(11)t(11;14)(p13;q11),-14,+21/47,idem,dup(1)(q21q24)

77

F/2

AML-M6

49,X,t(X;13)(q11;p11),dup(1)(q25q43),+8,+10,+21c/49,idem,del(9)(p22)

78

M

AML

46,XY,dup(1)(q21q44),add(14)(q?32)

79

F

AML-M4

46,XX,del(1)(q21q44),-7,add(12)(p13),dup(12)(q13q21),+mar

80

F/63

AML-M1

44,XX,dup(1)(q25q44),del(4)(q25q28),del(5)(q13q31),i(11)(q10),der(12)t(11;12)(q23;p12),del(13)(q12q14),-14,-17,add(19)(q13),der(19)t(?11;19)(q13;?q13)ins(19;?)(?q13;?)          Therapy for breast cancer

81

F/1

AML-M5b

46,XX,dup(1)(q44q12),del(6)(q21),del(10)(q23),add(11)(q23)

82

F/40

AML

46,XX,dup(1)(q21q44),add(14)(q?)

83

F/53

AML- M2

47,XX,dup(1)(q21q32),+8

84

F

AML

46,XX,t(12;21)(q12;q21)/46,XX,dup(1)(q21q42),r(7)(p22q31),add(13)(q34),der(21)t(7;21)(q32;q22)

85

F

AML

46,XX,dup(1)(q21q44)/46,idem,t(18;21)(q21;q22)

86

M

AML

46,XY,dup(1)(q12q31)/46,XY,der(18)t(1;18)(q12;p11)/46,XY,del(6)(p21p24)          FA

46,XY,add(4)(p15)

87

M/2

AML

48,XY,dup(1)(q23q31),+11,+21c          DS

88

F

AML

46,XX,dup(1)(q11q21),t(9;22)(q34;q11)

89

F/56

AML-M5a

46,X,t(X;5)(q27;q21),dup(1)(q32q42),inv(8)(p11q13)

90

F/15

AML-M1

48,XX,dup(1)(q21q24),t(6;11)(q27;q23),+19,+21          Therapy for lymphoma

91

F/3

AML-M7

46-47,XX,dup(1)(q32q44),t(1;5)(q32;p15),der(14;21)(q10;q10),+21c          DS

92

M/52

MDS-AML

46,XY,dup(1)(q21q31),add(11)(q23)

93

F/50

AML

46,XX,dup(1)(q21q41)          After therapy for AML

94

M/43

AML

46,XY,t(8;21)(q22;q22)     At diagnosis / 46,XY,dup(1)(q21q32)     At relapse

95

F/1

AML-M7

47,XX,der(7)t(1;7)(q22;p22),+21c/47,XX,dup(1)(q22q44),+21c          DS

96

M

AML

47,XY,+13/47,idem,dup(1)(q23q42)          At relapse

97

M/10

AML

46,XY,dup(1)(q21q42)          FA

98

M/4

AML-M4

46,XY,t(11;17)(p15;q21)/46,idem,dup(1)(q25q44)/47,idem,+del(1)(p11)

99

F/33

AML-M2

46,XX,t(8;21)(q22;q22)/46,idem,dup(1)(q21q31)

100

F/32

AML-M4

46,XX,t(3;11)(p25;p15),t(8;16)(p11;p13)/46,idem,dup(1)(q11q44)          Therapy for ALL

101

M/50

AML-M4

47,XY,+8/47,idem,dup(1)(q23q32)

102

F/37

AML-M3

46,XX,dup(1)(q21q32)          At remission

103

F/70

AML-M2

46,XX,dup(1)(q21q42),t(16;21)(p11;q22)/46,XX,der(7)t(1;7)(q21;q35),t(16;21)

104

M/31

AML-M1

46,X,idic(Y)(q12)x2,dup(1)(q12q42),-16,der(21)t(16;21)(p11;q22)/47,idem,+idic(Y)

105

F/5

AML

46,XX,dup(1)(q23q44),add(3)(q22),del(7)(q11q22),der(10),add(15)(q26)          FA

106

M/55

AML- M2

45,X,-Y,t(8;21)(q22;q22)      At diagnosis / 46,XY,dup(1)(q21q32)     At remission

107

F/62

AML-M5

46,XX,dup(1)(q11q21),-2,der(7)(p?),add(14)(q34),+mar

108

F/3

AML-M7

47,XX,dup(1)(p31p35),dup(1)(q32q44),+21c          DS

109

M/60

AML-M0

46,XY,dup(1)(q21q32),dmin

110


Abbreviations: M, male; F, female; MDS, myelodysplastic syndrome; PV, polycythemia vera; ET, essential thrombocythemia IMF, idiopathic myelofibrosis; CMPD, chronic myeloproliferative disorder; RA, refractory anemia; RAEB, refractory anemia with excess of blasts; CMMoL, chronic myelomonocytic leukemia; FA, Fanconiís anemia; PPMF, post polycythemia vera myelofibrosis; RCMD, refractory cytopenia with multilineage dysplasia; RAEBS, refractory cytopenia with multilineage dysplasia and ringed sideroblasts; CML, chronic myeloid leukemia; BP, blastic phase; AML, acute myeloid leukemia; AML-M4, acute myelomonocytic leukemia; DS, Downís syndrome; AML-M3, acute promyelocytic leukemia; AML-M2, acute myeloblastic leukemia with maturation; AML-M5, acute monoblastic leukemia; AML-M6, acute erythroleukemia; AML-M1, acute myeloblastic leukemia without maturation; AML-M7, ALL., acute lymphoblastic leukemia; acute megakaryoblastic leukemia; AML-M0, Acute myeloid leukemia with minimal differentiation.
1.Anderson and Bagby., 1982; 2.Carbonell et al., 1983; 3.Knuutila et al., 1983; 4. Mamaeva et al., 1983; 5.Papenhausen et al., 1984; 6.Schmid and Kohler., 1984; 7. Haubenstock et al., 1985; 8. Lawler and Swansbury.,1985; 9.Kerman et al., 1986; 10.Yunis et al., 1986; 11.Akahoshi et al., 1987; 12.Palmer et al., 1987; 13-14. Rege-Cambrin et al., 1987; 15.Richard et al., 1987; 16.Jarosova et al., 1988; 17. Fonatsch and Gradl., 1988; 18-19.Lofvenberg et al., 1990; 20-22.Fonatsch et al., 1991; 23.Kanamaru and Tamura 1993; 24-25.Ohyashiki et al., 1994; 26.Tien et al., 1994; 27.Satake et al., 1997; 28-29,87.Alter et al., 2000; 30,89.de Souza et al., 2000; 31-34.Andrieux et al., 2003; 35.Andrieux et al., 2004; 36.Kearns et al., 2004; 37-38.Alfaro et al., 2008; 39.Bacher et al., 2009; 40.Trakhtenbrot et al., 2010; 41.Vundinti et al., 2010; 42.Kolquist et al., 2011; 43-47,106.Quentin et al., 2011; 48.Kohno and Sandberg., 1980; 49.Smadja et al., 1984; 50.Hild and Fonatsch 1990; 51.Gozzetti et al., 2003; 52.Herens et al., 2003; 53. Lee et al., 2003; 54. Schoch et al., 2003; 55.Abruzzese et al., 2007; 56.Palandri et al., 2009; 57.Fabarius et al., 2011; 58.Sun et al., 2011; 59.Nacheva et al., 1982; 60.Haas et al., 1985; 61.de Alarcon et al., 1987; 62. Berger et al., 1988; 63.CG., 1988; 64.Misawa et al., 1988; 65. Orazi et al.,1988; 66. Tien et al.,1988; 67. Cuneo et al., 1990; 68.Kobayashi et al., 1990; 69.Pui et al., 1990; 70.Stuppia et al., 1990; 71.Cuneo et al., 1992; 72. Soekarman et al., 1992; 73.Ghaddar et al., 1994; 74.Raynaud et al., 1994; 75.Kudoh et al., 1995; 76.Nacheva et al., 1995; 77.Shikano et al., 1995; 78.Creutzig et al., 1996; 79.Kolstad et al., 1996; 80.Hda et al., 1996; 81.Tanaka et al., 1997; 82.Harrison et al., 1998; 83.Pallisgaard et al., 1998; 84.Tamura et al., 1998; 85-86.Raimondi et al., 1999; 88.Blann et al., 2000; 90.Panagopoulos et al., 2000; 91.Taylor et al., 2000; 92.Alvarez et al., 2001; 93.Clavio et al., 2001; 94-95.Seiter et al., 2001; 96.Strehl et al., 2001; 97.Kern et al., 2002; 98.Oliveira et al., 2002; 99.Forestier et al., 2003; 100.Lee et al., 2004; 101.Schmidt et al., 2004; 102.Bao et al., 2006; 103.Batzios et al., 2009; 104.Kim et al., 2009; 105.Jekarl et al., 2010; 107.Beach et al., 2012; 108. Gmidene et al., 2012; 109.Lundin et al., 2012; 110.Angelova et al., 2015.
Prognosis The prognosis is likely variable in myeloid malignancies as dup(1q) may be present at all stages in the bone marrow, including hypoplastic marrow without morphological evidence of transformation. The appearance of dup(1q) in association with leukaemic or myelofibrotic transformation and/or poor-risk genetic features may be predictive of inferior prognosis (Beach et al., 2012).

Cytogenetics

Cytogenetics Morphological Presents as one normal chromosome 1 and a dup(1)(q11-q44) chromosome. The breakpoints in 1q varied from 1q11 to 1q44, with a clustering to 1q21q32 (19 out of 110 cases) and 1q21q42, being duplicated in 13 out of 110 patients.
 
  Figure 1. Partial karyotypes showing duplication of the long arm of chromosome 1 (A) and Fluorescence in situ hybridization with LSI 1p36/1q25 probe (Abott, Vysis, USA) showing duplication of 1q25 sequences (green signal) on der(1) chromosome (arrow).
Additional anomalies Sole abnormality in 37 patients, mostly in chronic myeloproliferative disorders (3 PV, 3 ET, 6 MF, 1 CMMoL, 14 MDS and 3 CML), and less frequently in AML (7 cases). Associated in combination with an extra chromosome 8 in 11 (Papenhausen et al., 1984;Ohyashiki et al., 1994; Alfaro et al., 2008; Schoch et al., 2003; CG., 1988; Tien et al.,1988; Cuneo et al., 1992; Ghaddar et al., 1994; Creutzig et al., 1996; Tamura et al., 1998; Bao et al., 2006). Loss of chromosome 7 was observed in 3 AML patients (Haas et al., 1985; Hda et al., 1996; Ghaddar et al., 1994) and del(7q) in 4 cases, 3 of them with Fanconi anemia (Alter et al., 2000; Kearns et al., 2004; Quentin et al., 2011). del(5q) was found in 2 AML (Soekarman et al., 1992; Tanaka et al., 1997) and del(20q) was present in 3 (Trakhtenbrot et al., 2010; Kobayashi et al., 1990; Nacheva et al., 1995) cases.
The dup(1q) was apparently secondary anomaly- occurring in a subclone or together with the well-known primary abnormalities such as t(8;21)(q22;q22) in 2 (Tien et al.,1988; Lee et al., 2004), t(9;22)(q34;q11) in 8 CML (Kohno and Sandberg., 1980; Smadja et al., 1984; Hild and Fonatsch 1990; Lee et al., 2003; 54. Schoch et al., 2003; Palandri et al., 2009; Fabarius et al., 2011; Sun et al., 2011) and 1 AML (de Souza et al., 2000). t(15;17)(q24;q21) was found in 2 cases (Berger et al., 1988; Cuneo et al., 1992), 21q22 abnormalities in 5 (Raimondi et al., 1999; Kim et al., 2009; Jekarl et al., 2010) and 11q23 rearrangements in 4 AML patients (Nacheva et al., 1982; Harrison et al., 1998; Taylor et al., 2000; Clavio et al., 2001 ).
Cytogenetic clonal variation with karyotypically unrelated clones was found in 5 MPN (Rege-Cambrin et al., 1987; Andrieux et al., 2003; Alfaro et al., 2008; Hild and Fonatsch 1990; Sun et al., 2011) and 2 AML patients (Alter et al., 2000; Strehl et al., 2001).

Result of the chromosomal anomaly

Fusion Protein
Oncogenesis Duplication of all or part of the long arm of chromosome 1 is one of the most frequent chromosomal abnormalities in human neoplasia. In hematologic malignancies of the myeloid lineages, it has been reported in patients with various myeloproliferative conditions, including chronic myeloproliferative neoplasms and acute myelogenous leukemia. Although cytogenetically heterogeneous, duplication of the 1q21-1q32 segment is most commonly observed, indicating that certain chromosome 1 regions might harbor genes that are casually implicated in oncogenesis. The unbalanced nature of this rearrangement indicates, that the sequential duplication of 1q leading to chromosomal imbalances is likely implicated in neoplastic processes by a gene dosage effect. Whether appearance of 1q duplication marks only preleukemic cells participating indirectly, or it may be sufficient as the sole anomaly to promote leukemogenesis is unclear, as well as the role of cytotoxic therapy in some patients.
  

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Citation

This paper should be referenced as such :
Zamecnikova A, al Bahar S
dup(1)(q11-q44) in myeloid malignancies;
Atlas Genet Cytogenet Oncol Haematol. in press
On line version : http://AtlasGeneticsOncology.org/Anomalies/dup1q11-q44ID1443.html


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