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 [email protected]

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.

Genes Involved and Proteins

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.

Article Bibliography

Pubmed IDLast YearTitleAuthors
107046822000Fanconi anemia: myelodysplasia as a predictor of outcome.Alter BP et al
94369171998Clinical and biological characteristics of adult de novo and secondary acute myeloid leukemia with balanced 11q23 chromosomal anomaly or MLL gene rearrangement compared to cases with unbalanced 11q23 anomaly: confirmation of the existence of different entities with 11q23 breakpoint.Archimbaud E et al
111575062001Cytogenetic, interphase, and multicolor fluorescence in situ hybridization analyses in primary plasma cell leukemia: a study of 40 patients at diagnosis, on behalf of the Intergroupe Francophone du Myélome and the Groupe Français de Cytogénétique Hématologique.Avet-Loiseau H et al
116992062001The investigation of karyotypic instability in the high-hyperdiploidy subgroup of acute lymphoblastic leukemia.Betts DR et al
90546681997Cytogenetic study of 30 patients with multiple myeloma: comparison of 3 and 6 day bone marrow cultures stimulated or not with cytokines by using a miniaturized karyotypic method.Brigaudeau C et al
227490342012Detection of TET2 abnormalities by fluorescence in situ hybridization in 41 patients with myelodysplastic syndrome.Dambruoso I et al
118500732002Cytogenetic characterization of diffuse large cell lymphoma using multi-color fluorescence in situ hybridization.Dave BJ et al
183502942008Chromosome 20 deletions in myelodysplastic syndromes and Philadelphia-chromosome-negative myeloproliferative disorders: characterization by molecular cytogenetics of commonly deleted and retained regions.Douet-Guilbert N et al
161915112005FISH is superior to PCR in detecting t(14;18)(q32;q21)-IgH/bcl-2 in follicular lymphoma using paraffin-embedded tissue samples.Einerson RR et al
98582101998Bone marrow transplantation for adults with acute leukaemia and 11q23 chromosomal abnormalities.Forrest DL et al
16385001992Cytohematologic and cytogenetic prognostic factors at diagnosis and in the evolution in 46 primary myelodysplastic syndromes.González Manso AI et al
95932861998Ten novel 11q23 chromosomal partner sites. European 11q23 Workshop participants.Harrison CJ et al
230122302013Patterns of genomic aberrations suggest that Burkitt lymphomas with complex karyotype are distinct from other aggressive B-cell lymphomas with MYC rearrangement.Havelange V et al
21375471990Karyotypic patterns in acute mixed lineage leukemia.Hayashi Y et al
105492661999Two children with acute lymphoblastic leukemia and "jumping" translocations: both involve 1q23 as the donor breakpoint.Jarvis A et al
100898961999Prognostic implications of cytogenetic aberrations in diffuse large B-cell lymphomas.Jerkeman M et al
69529601982Correlation of karyotype with clinical features in acute lymphoblastic leukemia.Kaneko Y et al
199984442010Telomere shortening and chromosomal instability in myelodysplastic syndromes.Lange K et al
115794652001Novel evidence of a role for chromosome 1 pericentric heterochromatin in the pathogenesis of B-cell lymphoma and multiple myeloma.Le Baccon P et al
236731022013Cytogenetic and molecular aberrations of multiple myeloma patients: a single-center study in Singapore.Lim AS et al
19063421991Immunoglobulin gene rearrangements in acute lymphoblastic leukemia with the 9;11 translocation.Lorenzana AN et al
65732951983Complete or partial trisomy for the long arm of chromosome 1 in patients with various hematologic malignancies.Mamaeva SE et al
88461211996Comparison of fluorescence in situ hybridization, cytogenetic analysis, and DNA index analysis to detect chromosomes 4 and 10 aneuploidy in pediatric acute lymphoblastic leukemia: a Pediatric Oncology Group study.Martin PL et al
88895031996Isochromosomes in acute lymphoblastic leukaemia: i(21q) is a significant finding.Martineau M et al
89224951996Therapy-related chronic myelomonocytic leukaemia with bone marrow eosinophilia associated with der(11)t(1;11)(q21;q14).Muroi K et al
2790851978Trisomy of 1q in preleukaemia with progression to acute leukaemia.Najfeld V et al
239297562013PCDH10 promoter hypermethylation is frequent in most histologic subtypes of mature lymphoid malignancies and occurs early in lymphomagenesis.Narayan G et al
104606091999Cyclin D2 promoter disrupted by t(12;22)(p13;q11.2) during transformation of chronic lymphocytic leukaemia to non-Hodgkin's lymphoma.Qian L et al
22531761990Serial cytogenetic studies showing persistence of original clone in Hodgkin's disease.Reeves BR et al
73723401980The chromosome changes in non-Burkitt lymphomas.Reeves BR et al
172614972007Aggressive natural killer cell leukemia: report of a Chinese series and review of the literature.Ryder J et al
98342331998Identification of new nonrandom translocations in multiple myeloma with multicolor spectral karyotyping.Sawyer JR et al
145066972003Further cytogenetic characterization of multiple myeloma confirms that 14q32 translocations are a very rare event in hyperdiploid cases.Smadja NV et al
152577042004Classical and molecular cytogenetic abnormalities and outcome of childhood acute myeloid leukaemia: report from a referral centre in Israel.Stark B et al
92074101997Clonal chromosomal abnormalities as direct evidence for clonality in nasal T/natural killer cell lymphomas.Tien HF et al
229619732013Structural alterations in chronic lymphocytic leukaemia. Cytogenetic and FISH analysis.Travella A et al
152890202004Pathogenesis of jumping translocations: a molecular cytogenetics study.Wan TS et al
127507002003Cryptic insertion and translocation or nondividing leukemic cells disclosed by FISH analysis in infant acute leukemia with discrepant molecular and cytogenetic findings.Watanabe N et al
144996922003T-cell prolymphocytic leukemia with der(11)t(1;11)(q21;q23) and ATM deficiency.Yamaguchi M et al
107382982000A DNA probe combination for improved detection of MLL/11q23 breakpoints by double-color interphase-FISH in acute leukemias.von Bergh A et al

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