der(11)t(1;11)(q11-23;q14-25)

2015-12-01   Adriana Zamecnikova , Soad Al Bahar 

1.Kuwait Cancer Control Center, Department of Hematology annaadria@yahoo.com

Clinics and Pathology

Disease

De novo or secondary acute myeloid leukemia (AML) and acute lymphoblastic leukaemia (ALL), biphenotypic acute leukaemia (BAL), myelodysplastic syndrome (MDS), multiple myeloma (MM) and lymphoid malignancies.

Phenotype stem cell origin

13 patients were diagnosed with myeloid malignacies: AML 6 cases (Najfeld et al., 1978; Archimbaud et al., 1998; Harrison et al., 1998; Stark et al., 2004), MDS 5 cases (González et al., 1992; von Bergh et al., 2000; Lange et al 2010; Dambruoso et al., 2012; Harrison et al., 1998), polycythemia vera 1 patient (Douet- Guilbert et al., 2008) and chronic myelomonocytic leukemia 1 case (Muroi et al., 1996). Among them, 4 cases were identified as secondary diseases (Muroi et al., 1996; Archimbaud et al., 1998; Harrison et al., 1998). There were 6 patients with ALL (Kaneko et al., 1982; Mamaeva et al., 1983; Lorenzana et al., 1991; Harrison et al., 1998; Betts et al., 2001; Wan et al., 2004), one of them was a secondary leukaemia (Harrison et al., 1998) and there were 3 biphenotypic leukaemias (Hayhashi et al., 1990; Forrest et al., 1998; Jarvis et al., 1999). Chronic lymphocytic leukemia was diagnosed in 2 patients (Qian et al., 1999; Travella et al., 2013), one of them transformed to Non hodgkins lymphoma (Qian et al., 1999). 5 additional cases were diagnosed with lymphoma (Tien et al., 1997; Jerkeman et al., 1999; Le Baccon et al., 2001; Dave et al., 2002; Narayan et al., 2013). The remaining patients were (1 case each) multiple myeloma (Lim et al., 2013), plasma cell leukemia (Avet-Loiseau et al., 2001), T-prolymphocytic leukemia (Yamaguchi et al., 2003) and aggressive natural killer-cell leukemia (Ryder et al., 2007).
Table 1. Reported patients with der(11)(q11-q23;q14-25) in hematologic malignancies

 

Sex/ Age

Disease

Karyotype

 

Myeloid malignancies

1

M/38

Preleukemia AML

46,XY,der(11)t(1;11)(q11-12;q25)50,XX,+6,+8,+9,der(11),+18,+del(19)(p?),+20,+mar

2

M

RARS

46,XY,der(11)t(1;11)(q12;q23)

3

M/19

s-CMMoL

46,XY,der(11)t(1;11)(q21;q14)

4

M

s-AML

75,XXYY,-2,-3,+4,-10,der(11)t(1;11)(q21;q23)x2,-12,-14,-14,-15,-15,-16,-17,i(17)(q10),+18, del(20)(q11)x2,10-25dmin

5

M/18

s-MDS

47,XY,der(11)t(1;11)(q21;q23),+mar/48,idem,+mar

6

F/48

s-AML

44,XX,-3,-5,-7,del(9)(p13),der(11)t(1;11)(q21;q23),-18,+2mar

7

M/62

AML

75,XXYY,,3n.,+1,+4,+4,+5,+6,+7,+8,+9,der(11)t(1;11)(q21;q23)x2,+13,-14,-5,i(17)(q10), +18,+18,+19,+20,del(20)(q12)x2,dmin

8

M/22

AML- M5b

46,XX,der(11)t(1;11)(q31;q23)

9

M/31

MDS

s 46,XY,der(11)t(1;11)(q21;q23)/46,idem,add(6)(p21)

10

F

AML

47,XX,+8,del(9)(q12q22),der(10)t(10;11)(p13;q23)/47,idem,der(11)t(1;11)(q23;q23)/ 46,XX,der(7)t(3;7)(?;p22),t(9;10)(p22;p1? 5),der(11)t(10;11),-13,+22

11

M/60

PV

s 46,XY,der(11)t(1;11)(q12;q14)/46,XY,del(20)(q12)

12

M/65

RAEBI

47,XY,+8,der(11)t(1;11)(q21;q14-21)

13

F/65

RAEBI

46,X,add(4)(q23),del(20)(q12),+mar/46,idem,der(11)t(1;11)(q11;q25)

 

Acute lymphocytic leukemia

14

M/4

ALL

46,XY,der(11)t(1;11)(q21;q14)

15

F/62

ALL

46,XX,der(11)t(1;11)(q21;q23)

16

M

BP-ALL

51,XY,+6,+der(11)t(1;11)(q21;q23),+19, +21,+22

17

F/8

ALL

46,XX,add(4)(q35),t(9;11)(p22;q23),der(11)t(1;11)(q21;q14)

18

M/21

BP-ALL

46,XY,der(11)t(1;11)(q21;q23) BMT A 84

19

F/36

s- B-ALL

46,XX,der(11)t(1;11)(q21;q23),t(12;17)(p13;q21)

20

M/16

BP-ALL

46,XY,der(6)t(1;6)(q23;p21)/46,XY,der(11)t(1;11)(q23;q21)

21

M

ALL

63,XXY,-1,-2,-3,-7,-9,+10,der(11)t(1;11)(q12;q22),-13,-15,+18,-19,-20,+21/61-66,idem,+2

22

M/50

B-ALL

45,XY,der(9)t(9;22)(q34;q11),-10,der(11)t(1;11)(q12;q25),+14,der(14;22) t(14;20)(p13;p13) t(9;22),der(15)t(1;15)(q12;p13),der(19)t(1;19)(q12;p13), der(20)t(1;20)(q12;p13),-21

 

Other hematological neoplasms

23

M/70

PCL

45,XY,der(5;20)(p10;p10),der(11)t(1;11)(q12;q23),t(11;14)(q13;q32),-13,der(20)t(5;20) (q10;p10)dup(5)

24

M/60

T-PLL

42,XY,add(1)(q21),add(7)(q22),i(8)(q10),-9,der(11)t(1;11)(q21;q23),del(12) (p12),-13,-14, -15,add(17)(p13),add(18)(q23),-22,+mar/42,idem,+8,+15, add(21)(p11)/47,XY,+21

25

M/36

ANKL

48,XY,+3,der(11)t(1;11)(q21;q25),add(22)(q13),+mar/50,idem,+13,+20

26

F

MM

55-57,XX,+X,-X,der(X;14)(q10;q10),der(1)del(1)(q21q32)inv(1)(q13q32),+3,+5,+6,+7,-8, +9,+11,der(11)t(1;11)(q12;q25),+add(12)(p11),+13,+15,+18, +18,+19, +19,+21,+22,+1-2mar

27

M/40

CLL

46,XY,del(6)(q13q21),del(7)(q22q34),-8,add(9)(q34),del(9)(q22),der(11)t(1;11)(q21;q23),-17,+r,dmin

 

Lymphomas

28

F/37

ENK/T-cell

47,X,-X,der(1)t(1;14)(p22;q11),-2,i(6)(p10),del(7)(q31q36),add(8)(p23), der(11)t(1;11) (q11;q25),-18,+20,+21,-22,+3mar/49,idem,+i(6)(p10),+del(7)(q31q36) LN

29

F/78

DLBCL

43,XX,-1,?dup(3)(q21q27),der(11)t(1;11)(q23;q13),der(14)t(11;14)(q13;q32),-21 LN

30

F

CLL- NHL

47,XX,+12,t(14;19)(q32;q13)47,XX,der(11)t(1;11)(q12;q25),+12,t(12;22),t(14;19)/47,idem,add(10)(q24)LN

31

M/84

FL

48,XY,+X,der(11)t(1;11)(q12;q24),t(14;18)(q32;q21),+der(18)t(14;18)LN

32

F

DLBCL

50,XX,+X,der(2)t(2;15)(p13;q13),der(11)t(1;11)(q21;q25),+12,+del(13)(q14),der(14)t(14;15)(q32;q22),der(15)t(2;15)(p23;q13),der(16)t(7;16)(q22;q22), der(22)t(2;22)(q33;p11) LN

33

M/70

DLBCL

47,XY,del(3)(q22q25),t(4;9)(q21;q34),del(6)(q16q23),del(9)(q34),der(11)t(1;11)(q21;q13), del(12)(q22q23),+18,add(19)(q13)/46,XY,del(20)(q12)


Abbreviations: M, Male; F, Female; AML, Acute myeloid leukemia; RARS, Refractory anemia with ringed sideroblasts; CMMoL, Chronic myelomonocytic leukemia; s-, secondary; MDS, myelodysplastic syndrome; PV, polycythemia vera; RAEBI, Refractory anemia with excess blasts-1; ALL, acute lymphoblastic leukemia; BP, Bilineage or biphenotypic leukemia; CLL, Chronic lymphocytic leukemia; PCL, Plasma cell leukemia; T-PLL, T-prolymphocytic leukemia; ANKL, Aggressive natural killer-cell leukemia; MM, Multiple myeloma; ENK/T, Extranodal NK/T-cell, NHL, Non-Hodgkins lymphoma; DLBCL, Diffuse large B-cell lymphoma; FL, Follicular lymphoma; LN, lymph node.
1. Najfeld et al., 1978; 2. Gonz ález et al., 1992., 3. Muroi et al., 1996; 4. Archimbaud et al., 1998; 5-8,19. Harrison et al., 1998; 9. von Bergh et al., 2000; 10. Stark et al., 2004; 11. Douet- Guilbert et al., 2008; 12. Lange et al 2010; 13. Dambruoso et al., 2012; 14. Kaneko et al., 1982; 15. Mamaeva et al., 1983; 16. Hayhashi et al., 1990; 17. Lorenzana et al., 1991; 18. Forrest et al., 1998; 19. Harrison et al., 1998; 20. Jarvis et al., 1999; 21. Betts et al., 2001; 22. Wan et al., 2004; 23. Avet-Loiseau et al., 2001; 24. Yamaguchi et al., 2003; 25. Ryder et al., 2007; 26. Lim et al., 2013; 27. Travella et al., 2013; 28. Tien et al., 1997; 29. Jerkeman et al., 1999; 30. Qian et al., 1999; 31. Le Baccon et al., 2001; 32. Dave et al., 2002; 33. Narayan et al., 2013.

Epidemiology

here was 22 male and 11 female patients (sex ratio 2:1). The most notable prevalence of male patients was in myeloid cases (10 males/3 females), while there were 6 male patients and 3 females with ALL. Most of the cases were adults with a median age of 44 years (range 8-84 years) for all patients. The median age in myeloid cases was 42.8 years (range 18 to 65 years) and 51.5 years in other neoplasms (range 36 to 70 years). The lowest median age was in ALL/biphenotypic leukemia patients (28.1 years, range 4 to 62 years) and the highest in lymphoma patients (67.2 years, range 37 to 84 years).

Prognosis

Heterogeneous group of diseases; prognosis may depend on chronic versus advanced disease. One patient with BP-ALL was alive 84 months after bone marrow transplant (BMT) (Forrest et al., 1998), however 3 additional ALL patients (Mamaeva et al., 1983; Martineu et al., 1996; Harrison et al., 1998) as well the 3 myeloid cases have relapsed and died of the disease with extremely short survival, including the sMDS case with BMT who died after transformation to AML (Harrison et al., 1998). Therefore, the prognosis is likely unfavorable in acute leukemia patients and in patients with complex karyotypes.

Cytogenetics

Cytogenetics morphological

Unbalanced rearrangement, presents as 2 normal chromosomes 1, one normal chromosome 11 and a der(11)t(1;11) chromosome. Most patients presented with 1q21 (17 patients) and 11q23 breakpoints (15 patients), while the der(11)t(1;11)(q21;q23) was the most frequent rearrangement (11 out of 33 patients).

Additional anomalies

Seven reported cases showed this translocation either as the sole abnormality (Najfeld et al., 1978; Kaneko et al., 1982; Mamaeva et al., 1983; González et al., 1992., Muroi et al., 1996; Forrest et al., 1998; Harrison et al., 1998; von Bergh et al., 2000) or as part of a simple karyotype in three cases (Harrison et al., 1998; von Berg et al., 2000; Lange et al 2010). In 2 patients, it was found in a sideline clone (Jarvis et al., 1999; Douet- Guilbert et al., 2008).SIn myeloid malignancies, a trisomy 8 was found in 4 cases (Najfeld et al., 1978; Harrison et al., 1998; Stark et al., 2004; Lange et al 2010), del(20q) in 4 patients (Archimbaud et al., 1998; Harrison et al., 1998; Douet- Guilbert et al., 2008; Dambruoso et al., 2012) and i(17)(q10) in 2 patients, both with near-triploid karyotypes (Archimbaud et al., 1998; Harrison et al., 1998). The t(9;22)(q34;q11) was found as an accompanying anomaly in one ALL case. A complex karyotype was present in all lymphoma patients, while the 14q32 rearrangement was found as an accompanying anomaly in 4 out of 6 lymphoma patients (Jerkmen et al., 1999; Qian et al., 1999; Le Baccon et al., 2001; Narayan et al., 2013).

Variants

To include: Addition patients with alternative 1q and 11q breakpoints are included in Table 2

 

Sex/ Age

Disease

Karyotype

 

Myeloid malignancies

1

M/38

Preleukemia AML

46,XY,der(11)t(1;11)(q11-12;q25), 50,XX,+6,+8,+9,der(11),+18,+del(19)(p?),+20,+mar

2

M

RARS

46,XY,der(11)t(1;11)(q12;q23)

3

M/19

s-CMMoL

46,XY,der(11)t(1;11)(q21;q14)

4

M

s-AML

75,XXYY,-2,-3,+4,-10,der(11)t(1;11)(q21;q23)x2,-12,-14,-14,-15,-15,-16,-17,i(17)(q10),+18, del(20)(q11)x2,10-25dmin

5

M/18

s-MDS

47,XY,der(11)t(1;11)(q21;q23),+mar/48,idem,+mar

6

F/48

s-AML

44,XX,-3,-5,-7,del(9)(p13),der(11)t(1;11)(q21;q23),-18,+2mar

7

M/62

AML

75,XXYY,,3n.,+1,+4,+4,+5,+6,+7,+8,+9,der(11)t(1;11)(q21;q23)x2,+13,-14,-5,i(17)(q10),+18,+18,+19,+20,del(20)(q12)x2,dmin

8

M/22

AML- M5b

46,XX,der(11)t(1;11)(q31;q23)

9

M/31

MDS

s 46,XY,der(11)t(1;11)(q21;q23)/46,idem,add(6)(p21)

10

F

AML

47,XX,+8,del(9)(q12q22),der(10)t(10;11)(p13;q23)/47,idem,der(11)t(1;11)(q23;q23)/ 46,XX,der(7)t(3;7)(?;p22),t(9;10)(p22;p1? 5),der(11)t(10;11),-13,+22

11

M/60

PV

s 46,XY,der(11)t(1;11)(q12;q14)/46,XY,del(20)(q12)

12

M/65

RAEBI

47,XY,+8,der(11)t(1;11)(q21;q14-21)

13

F/65

RAEBI

46,X,add(4)(q23),del(20)(q12),+mar/46,idem,der(11)t(1;11)(q11;q25)

 

Acute lymphocytic leukemia

14

M/4

ALL

46,XY,der(11)t(1;11)(q21;q14)

15

F/62

ALL

46,XX,der(11)t(1;11)(q21;q23)

16

M

BP-ALL

51,XY,+6,+der(11)t(1;11)(q21;q23),+19,+21,+22

17

F/8

ALL

46,XX,add(4)(q35),t(9;11)(p22;q23),der(11)t(1;11)(q21;q14)

18

M/21

BP-ALL

46,XY,der(11)t(1;11)(q21;q23)

19

F/36

s- B-ALL

46,XX,der(11)t(1;11)(q21;q23),t(12;17)(p13;q21)

20

M/16

BP-ALL

46,XY,der(6)t(1;6)(q23;p21)/46,XY,der(11)t(1;11)(q23;q21)

21

M

ALL

63,XXY,-1,-2,-3,-7,-9,+10,der(11)t(1;11)(q12;q22),-13,-15,+18,-19,-20,+21/61-66,idem,+2

22

M/50

B-ALL

45,XY,der(9)t(9;22)(q34;q11),-10,der(11)t(1;11)(q12;q25),+14,der(14;22) t(14;20)(p13;p13) t(9;22),der(15)t(1;15)(q12;p13),der(19)t(1;19)(q12;p13),der(20)t(1;20)(q12;p13),-21

 

Other hematological neoplasms

23

M/70

PCL

45,XY,der(5;20)(p10;p10),der(11)t(1;11)(q12;q23),t(11;14)(q13;q32),-13,der(20)t(5;20)(q10;p10)dup(5)

24

M/60

T-PLL

42,XY,add(1)(q21),add(7)(q22),i(8)(q10),-9,der(11)t(1;11)(q21;q23),del(12)(p12),-13,-14, -15,add(17)(p13),add(18)(q23),-22,+mar/42,idem,+8,+15,add(21)(p11)/47,XY,+21

25

M/36

ANKL

48,XY,+3,der(11)t(1;11)(q21;q25),add(22)(q13),+mar/50,idem,+13,+20

26

F

MM

55-57,XX,+X,-X,der(X;14)(q10;q10),der(1)del(1)(q21q32)inv(1)(q13q32),+3,+5,+6,+7,-8, +9,+11,der(11)t(1;11)(q12;q25),+add(12)(p11),+13,+15,+18, +18,+19,+19,+21,+22,+1-2mar

27

M/40

CLL

46,XY,del(6)(q13q21),del(7)(q22q34),-8,add(9)(q34),del(9)(q22),der(11)t(1;11)(q21;q23),-17,+r,dmin

 

Lymphomas

28

F/37

ENK/T-cell

47,X,-X,der(1)t(1;14)(p22;q11),-2,i(6)(p10),del(7)(q31q36),add(8)(p23), der(11)t(1;11)q11;q25),-18, +20,+21,-22,+3mar/49,idem,+i(6)(p10),+del(7)(q31q36) LN

29

F/78

DLBCL

43,XX,-1,?dup(3)(q21q27),der(11)t(1;11)(q23;q13),der(14)t(11;14)(q13;q32),-21LN

30

F

CLL-NHL

47,XX,+12,t(14;19)(q32;q13), 47,XX,der(11)t(1;11)(q12;q25),+12,t(12;22),t(14;19)/47,idem,add(10)(q24)LN

31

M/84

FL

48,XY,+X,der(11)t(1;11)(q12;q24),t(14;18)(q32;q21),+der(18)t(14;18)LN

32

F

DLBCL

50,XX,+X,der(2)t(2;15)(p13;q13),der(11)t(1;11)(q21;q25),+12,+del(13)(q14),der(14)t(14;15)(q32;q22), der(15)t(2;15)(p23;q13),der(16)t(7;16)(q22;q22),der(22)t(2;22)(q33;p11) LN

33

M/70

DLBCL

47,XY,del(3)(q22q25),t(4;9)(q21;q34),del(6)(q16q23),del(9)(q34),der(11)t(1;11)(q21;q13),del(12) (q22q23),+18,add(19)(q13)/46,XY,del(20)(q12)

 

Alternative 1q/11q breakpoints

34

F/70

Mature B- lymphoma

50,XX,+X,+3,+7,der(11)t(1;11)(q25;q23),-13,t(14;18)(p?;p?),-15,+3mar/50,idem,add(19) (q13)LN

35

M/46 lymph

HD

75,XX,-Y,+2,+3,+4,der(4)t(1;4)(q12;q31)x2,+i(5)(q10),-6,-6,+add(7)(p15)x2,-8,+9,-10,der(10)t(10;11) (p15;q13),i(10)(q10),+11,der(11) t(1;11)(q21q32;q13)x2,+14,-15,-17,-17,-18,+19,+20,21,i(21)(q10)x2, +hsr(?),+5mar LN

36

M/11

B-ALL

58,XY,-X,-1,-2,-3,-5,?del(6)(q23q25),-7,-9,+10,der(11)t(1;11)(q25;q11),-13,-15,-16,-17,-20, -22,+mar/ 57-59,idem,dup(1)(q12q25)/55,XX,+X,+4,+?del(6),i(7)(q10),+8,+10,der(13)t(1;13)(q25;q32),+14,+18,+19,+21

37

M

MM

52,XY,del(1)(p11p21),der(2)t(X;2)(q2?1;q25),+der(3)t(2;3)(q2?5;q28),der(4)t(4;14)(p16;q32),del(5)(q13q22),+der(5)t(5;8)(q13;q22),der(6)t(6;13)(p25;q3?3),+der(7)t(7;16)(p13;p11),der(8)t(4;8)(q28;q21),+9,del(9)(q21q33)x2,+11,del(12)(p?),-13,del(14)(q2?4),13,+15,der(16)t(1;16)(q11;q11),+der(19)t(8;19)(q23;p12)/52,XY,del(1),der(2)t(X;2),der(4)dup(4)(q2?1q3?)t(4;11)(q3?;q23),der(4)t(4;14),del(5),+der(5)t(5;8),+der(7)t(7;8)(p13;?),+9,del(9)x2,der(11)t(1;11)(q11;q2?1),der(12)(p?),del(14),+15,+19/
52, XY,del(1),der(2)t(2;4)(q24;q32),der(2)t(X;2),+der(3)t(3;7)(p11;?),der(4),del(5),+der(5),der(7)t(7;8),+9,del(9)x2,+der(11)t(1;11),del(12),del(14),+15,+19

38

F

MM

4850,XX,+del(3)(q24q28),dup(5)(q23q35),del(6)(q21),+der(6)t(6;13)(q23;q13),add(8)(p10),+9,dic(9;11)(p13;q23),der(11)t(1;11)(q10;q23),del(14)(q32),+15,+17,der(18)t(1;18)(q10;q23),+mar

39

M

MM

46-49,XY,t(3;14)(q21;q32),del(6)(q?23),der(8)t(8;19),+add(9)(p?21),der(10)t(10;12)(q24;q24),der(11) t(1;11)(q25;q23),der(12)t(12;15)(q15;q21),-13,+add(15)(p11),-16,+19, +der(20)t(1;20)(q12;q13)

40

M

FA MDS

46,XY,der(11)t(1;11)(q23;q23)/46,idem,del(6)(p21)

41

M

MM

40,X,Y,add(1)(q32),der(2)ins(2;2)(p12;q31q22)t(2;2)(p21;q32),t(2;14)(p12;q32),add(3)(p21),t(4;14)(p16;q32),add(6)(q13),der(8)t(8;21)(p11;q11),der(9)t(1;9)(p24;q31),10,der(11)t(1;11)(q23;q11),der(13) t(13;14)(q12;q11),-14,-14,add(16)(q12),-17,add(18)(p11),-20,der(20)t(1;20)(p11;q13),-21, +mar/ 80,idemx2

42

M/0

AML M4

46,XY,der(1)t(1;11)(q21;q23)t(1;11)(p12;q25)ins(1;11)(p32;q13q23),der(11)t(1;11)(q21;q23)del(11)(q13q23)

43

M/0

AML M4

46,XY,der(1)t(1;11)(q21;q23)t(1;11)(p12;q25)ins(1;11)(p32;q13q23),der(11)t(1;11)(q21;q23)del(11)(q13q23)

44

M

FL

53,X,-Y,+add(5)(q31),i(6)(p10),+7,+8,+10,der(11)t(1;11)(q23;q25),t(14;18)(q32;q21),+i(21)(q10),+3mar

45

M/58

BL

48,XY,inv(1),t(3;14;18),t(8;22)(q24;q11),add(9),der(11)t(1;11)(q25;q13),+18,+20 LN 47,XY,inv(1),t(3;14;18),t(8;22),add(9),der(11)t(1;11),add(13)(?q12),add(15)(p12),+18

46

M41

BL

46,XY,del(1)(q32),t(8;14)(q24;q32),der(11)t(1;11)(q32;q2?3),dup(13)(q2?q?)


Abbreviations: M, Male; F, Female; AML, Acute myeloid leukemia; RARS, Refractory anemia with ringed sideroblasts; CMMoL, Chronic myelomonocytic leukemia; s-, secondary; MDS, myelodysplastic syndrome; PV, polycythemia vera; RAEBI, Refractory anemia with excess blasts-1; ALL, acute lymphoblastic leukemia; BP, Bilineage or biphenotypic leukemia; CLL, Chronic lymphocytic leukemia; PCL, Plasma cell leukemia; T-PLL, T-prolymphocytic leukemia; ANKL, Aggressive natural killer-cell leukemia; MM, Multiple myeloma; ENK/T, Extranodal NK/T-cell, NHL, Non-Hodgkins lymphoma; DLBCL, Diffuse large B-cell lymphoma; FL, Follicular lymphoma; LN, lymph node. HD., Hodgkin disease; FA., Fanconi anemia.
1. Najfeld et al., 1978; 2. González et al., 1992., 3. Muroi et al., 1996; 4. Archimbaud et al., 1998; 5-8,19. Harrison et al., 1998; 9. von Bergh et al., 2000; 10. Stark et al., 2004; 11. Douet- Guilbert et al., 2008; 12. Lange et al 2010; 13. Dambruoso et al., 2012; 14. Kaneko et al., 1982; 15. Mamaeva et al., 1983; 16. Hayhashi et al., 1990; 17. Lorenzana et al., 1991; 18. Forrest et al., 1998; 19. Harrison et al., 1998; 20. Jarvis et al., 1999; 21. Betts et al., 2001; 22. Wan et al., 2004; 23. Avet-Loiseau et al., 2001; 24. Yamaguchi et al., 2003; 25. Ryder et al., 2007; 26. Lim et al., 2013; 27. Travella et al., 2013; 28. Tien et al., 1997; 29. Jerkeman et al., 1999; 30. Qian et al., 1999; 31. Le Baccon et al., 2001; 32. Dave et al., 2002; 33. Narayan et al., 2013. 34. Reeves et al., 1980; 35. Reeves et al., 1990; 36. Martineu et al., 1996; 37. Martin et al., 1996; 38. Brigaudeauet al., 1997; 39. Sawyer et al., 1998; 40. Alter et al., 2000; 41. Smadja et al., 2003; 42-43. Watanabe et al., 2003; 44. Einerson et al., 2005; 45. Li et al., 2006; 46. Havelange et al., 2013.

Result of the Chromosomal Anomaly

Oncogenesis

Unbalanced translocations of the long arm of chromosome 1 to the long arm of chromosome 11 are chromosomal abnormalities detectable in both hematologic neoplasms and lymphomas. Although cytogenetically heterogeneous, der(11)t(1;11)(q12-21;q14-25) results in trisomy of genes located on 1q, associated with partial monosomy of 11q. May be found as a sole abnormality or part of a simple karyotype in myeloid malignancies and ALL, suggesting that it may be important for disease initiation in these malignancies. Whereas, in the majority of cases this unbalanced rearrangement was apparently a secondary aberration -occurring in complex karyotypes or together with the well-known primary abnormalities, therefore representing clonal evolution associated with disease progression. The possible role of previous mutagenic exposure in these cases, particularly in cases with secondary diseases remains a poorly understood finding.

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Summary

Note

The reciprocal t(1;11)(q21;q23) translocation fuses the KMT2A (MLL) gene to MLLT11 (AF1q) on chromosomal band 1q21

Citation

Adriana Zamecnikova ; Soad Al Bahar

der(11)t(1;11)(q11-23;q14-25)

Atlas Genet Cytogenet Oncol Haematol. 2015-12-01

Online version: http://atlasgeneticsoncology.org/haematological/1651/der(11)t(1;11)(q11-23;q14-25)