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der(18)t(1;18)(q10-25;q11-23)

Written2015-06Adriana Zamecnikova, Soad Al Bahar
Kuwait Cancer Control Center, Laboratory of Cancer Genetics, Department of Hematology, Shuwaikh, 70653, Kuwait

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Identity

ICD-Topo C420,C421,C424 BLOOD, BONE MARROW, & HEMATOPOIETIC SYS
ICD-Morpho 9811/3 B lymphoblastic leukaemia/lymphoma, NOS
ICD-Morpho 9861/3 AML with mutated NPM1; AML with mutated CEBPA; Acute myeloid leukaemia, NOS
ICD-Morpho 9989/3 Myelodysplastic syndrome, unclassifiable
Atlas_Id 1655
 
  Partial karyotypes with der(18)t(1;18)(q10;q11)

Clinics and Pathology

Disease Acute myeloid leukemia (AML), acute lymphocycic leukemia (ALL), multiple myeloma (MM) and lymphoid neoplasms
Phenotype / cell stem origin pluripotent
Etiology Myeloid neoplasms: a 64 year old female with refractory anemia and 4 patients with AML (1 female infant with Down syndrome and 3 adults (2 males, 1 female; aged 21 to 66 years). Acute lymphoblastic leukemia: a 2 years old female infant with Down syndrome and 3 adults (2 males and 1 female; aged 43 to 70 years). Multiple myeloma: female prevalence (1 male, 10 females) and 12 patients with various lymphoid malignancies: (6 males, 6 females; aged 34 to 70 years)
Epidemiology 32 cases to date; 11 male and 21 female patients aged 1-70 yrs (Table 1)

 

Sex/Age

Chromosome anomalies

Disease

 

 

Myeloid neoplasms

 

1

F/1

48,XX,+8,der(18)t(1;18)(q25;q23),+21c

AML-M6

2

M/52

46,X,-Y,+8,t(8;21)(q22;q22),der(18)t(1;18)(q25;q21)

AML-M2

3

F/64

46,XX,del(2)(q?),r(18)/46,XX,der(18)t(1;18)(q21;q21)

MDS

4

M/21

46,XY,der(18)t(1;18)(q21;q23)

AML-M4

5

F/66

46,XX,der(18)t(1;18)(q25;q23)

AML

 

 

Acute lymphoblastic leukemia

 

6

M

46,XY,t(12;16)(q21;q21),der(18)t(1;18)(q21;q21),add(22)(q11)

T-cell

7

F/2

47,XX,der(18)t(1;18)(q25;q23),+21c

ALL

8

M/43

46,XY,t(9;22)(q34;q11),der(18)t(1;18)(q11;q23),-20,+mar

B-cell

9

F/70

46,XX,t(9;22)(q34;q11)/46,idem,der(4)t(1;4)(q12;q31)/46,idem,der(18)t(1;18)(q12;q23)

B-cell

 

 

Multiple myeloma

 

10

F

48-50,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

MM

11

F

42,X,del(X)(q27),del(1)(p21p22),der(6)t(6;21)(q11;q11),der(8)t(8;16)(q22;p11),r(12),-13,der(15) t(15;16)(p?13;q11),-16,der(18)t(1;18)(q11;q23),-20, -21,del(22)(q13)

MM

12

F/69

44,X,-X,del(7)(q22q35),del(8)(p13),-13,add(14)(q24),der(16)t(1;16)(q21;q12),der(18)t(1;18) (q12;q23),+19,-20,-22,+mar

MM

13

F/59

46,XX,del(6)(q15q25),+9,del(13)(q12q14),t(14;16)(q32;q23),der(18)t(1;18)(q12;q22), der(22)
t(11;22)(p11;q13)

MM

14

F

45-47,XX,+1,der(1;16)(q10;p10)add(1)(q?42),t(1;9)(q42;p24),add(2)(q37),der(6)t(6;7)(p25;q22) del(6)(q25),+7,der(7)t(6;7),der(12)t(1;12)(q12;p12)add(1)(q?42),-13,der(18)t(1;18)(q12;q21) add(1)(q?42)

MM

15

F

50,XX,+3,der(6)t(6;8)(p21;q24),+7,der(8)t(6;8)(p12;p?23)t(6;8)(p21;q24),+9,add(11)(q24),-13,+15,der(16)t(1;16)(q12;q24),del(17)(p?13),der(18)t(1;18)(q12;q23),+19,del(19)(q13)

MM

16

F

72-86,XX,-Y,-Y,+1,+1,add(1)(p13)x2,del(1)(p11p22),der(1)del(1)(p11p22)del(1)(q11),der(1)
t(1;1)(p32;q12),-3,del(6)(q15)x2,-9,-10,-10,add(11)(p15)x2,-13,-13,-14,-14,+16,+add(16)(q24),
der(16)t(1;16)dup(1)(q12q21),del(17)(p11),-18,der(18)t(1;18)(q12;q23),-22

MM

17

F

53,XX,+3,+5,+7,?inv(8)(p21q24),del(?9)(p22),+11,del(?14)(q24),der(18)t(1;18)(q12;q23),
+19,+20,inc
52,X,-X,+3,+4,t(4;9)(q21;q34),+6,+7,+9,-13,+15,+der(17)t(1;17)(q12;p?11),der(18)t(1;18)
(q12;q23),+19,?i(20)(q10)

MM

18

F

48,X,-X,+der(1;16)(q10;p10),add(1)(q?42),der(1)del(1)(p11p31)del(1)(q12),add(6)(q27),+7, ?t(8;22)(q24;q11)x2,del(12)(q21q23),add(?13)(q12),+18,der(18)t(1;18)(q12;q23),der(18)t(1;18) (q12;q23)dup(1)(q12q25)/80-83,idemx2,-der(1),-4,-5,-7,-8,-9,-9,-11,-14,-15,-16,del(16)(q22),-17,del(?20)(q11q13), +mar,inc

MM

19

M

73-86,XXYY,del(1)(q42)x2,del(1)(p11p31)x2,-2,-3,-4,-4,+5,del(5)(q15q33)x2,-7,del(9)(p13),-10,-10,-11,t(11;17)(q13;p13),-12,-13,-14,-15,-15,-16,-17,add(17)(p11),der(18)t(1;18)(q12;q23) x2,-21

MM

20

F

46,X,-X,add(1)(q21),ider(1)(q10)del(1)(q42),?del(5)(p15),+hsr(7)(p15),der(8)t(1;8)(p13;q24), +add(9)(p12),der(10)t(1;10)(q21;p13)add(10)(q26),del(11)(q21q23),del(13)(q12q22),i(13)(q10),-14,add(15)(q26),der(18)t(1;18)(q12;q23),add(20)(q13),der(21)t(1;21)(q12;p13)ins(21;?)(p13;?), add(22)(p11)

MM

 

 

Lymphoma

 

21

F/70

50,XX,+X,+5,+7,t(8;9)(q21;p13),+12,del(13)(q14),t(14;18)(q32;q21),der(18)t(1;18)(q22;q23)

DLBCL

22

M/58

47,XY,+3,+5,+8,der(14)t(10;14)(q13;q32),der(18)t(1;18)(q31;q23)

FL

23

M/66

45-47,X,-X,t(2;4)(p23;q33),add(6)(p25),+12,der(18)t(1;18)(q12;q23)

ALCL

24

F/57

46,X,der(X)t(X;1)(q28;q12-21)/46,XX,der(18)t(1;18)(q12-21;q23)

FL

25

F/39

45,X,-X,dup(1)(q21q25),t(8;14)(q24;q32),der(18)t(1;18)(q31;q22)

BL

26

F

44-46,XX,der(18)t(1;18)(q21;q23)/45-46,X,der(X)t(1;X)(q12;q28)

FL

27

M/49

46,dup(X)(p22p22),Y,t(8;14)(q24;q32),der(18)t(1;18)(q12;q21)/47,idem,add (15)(q26),+16

PT LPD

28

F

50,XX,der(3)t(3;4)(q27;p14),del(4)(p14),+del(5)(q33q35),i(6)(p10),+7,+9,t(14;18)(q32;q21), der(17)t(17;18)(q11;q11),+der(17),der(18)t(1;18)(q21;q12)

FL

29

M

48,XY,+X,+7,del(10)(q22q24),der(18)t(1;18)(q11;q23)/48,idem,t(8;14)(q24;q32),del(11) (p13p15),dup(12)(q15q21)

FL

30

M

46,XY,del(1)(q24),der(6)t(6;8)(q15;q13),der(6)t(6;15)(p22;q11),+del(7)(q11),der(8)t(1;8)(q24;p11),t(11;14)(q13;q32),der(18)t(1;18)(q24;q23),+21

MCL

31

M/34

46,XY,der(2)t(2;14)(p12;q32),+7,dup(11)(q13q24),der(14)t(2;14)(p12;q32),der(14)t(1;14)(q12 or p11;p11)t(8;14)(q24;q32),-21,der(22)t(21;22) (q11;p11)/47, idem,+X,der(18)t(1;18)(q21;q2?2)

BL

32

F/44

80-82,XXXX,add(1)(p13),add(2)(q37),add(3)(p25),inv(3)(p21p25),-4,del(5)(q11q33),del(7) (q31q35),-8,-12,-13,-14,-15,-16,del(17)(p12),der(18)t(1;18)(q21;q23),+18,-19,+19,add(20)(q13)x2,add(21)(q22)

ATLL (HTLV-1+)


Abbreviations: M, male; F, female; MDS, myelodysplastic syndrome; AML, acute myeloid leukemia; MM, multiple myeloma; DLBCL, diffuse large B-cell lymphoma; FL, follicular lymphoma; MCL, mantle cell lymphoma; PT LPD, post-transplant lymphoproliferative disorder; BL, Burkitt lymphoma/leukemia; ALCL, anaplastic large cell lymphoma; ATLL, adult T-cell lymphoma/leukemia.
References: 1. GFCH (Groupe Francais de Cytogénétique Hématologique), 1988; 2. Misawa et al., 1988; 3. Geddes et al.,1990; 4. Zamecnikova et al., 2002; 5. Farag et al., 2006; 6. Heerema et al., 1998; 7. Brozek et al., 1999; 8. Lee et al., 2002; 9. Manola et al., 2008; 10. Brigaudeau et al., 1997; 11. Sawyer et al., 1998; 12. Le Baccon et al., 2001; 13. Mohammed et al., 2007; 14-20. Sawyer et al., 2014; 21. Koduru et al., 1987; 22. Slavutsky et al., 1987; 23. Ott et al., 1998; 24. Rosenwald et al., 1999; 25. Le Baccon et al., 2001; 26. Katzenberger et al., 2004; 27. Djokic et al., 2006; 28-29. Johnson et al., 2008; 30. Salaverria et al., 2008; 31. Havelange et al., 2013; 32. Narayan et al., 2013.

CLINICS
Prognosis Unknown; likely unfavorable in cases with complex karyotypes.

Cytogenetics

Cytogenetics Morphological Found as -18, + der(18)t(1;18)(q10-25;q11-23) with 2 normal chromosomes 1, a normal chromosome 18 and a der(18) chromosome. Breakpoints in 1q were clustering to 1q21-23; the 18q breaks occurred mostly in 18q21-23 region.
Additional anomalies May be associated with known anomalies such as t(8;21)(q22;q22) or +8 in AML and t(9;22)(q34;q11) in ALL; part of complex karyotypes in MM. Associated with 14q32 rearrangements, (8 cases); +7 (4 cases), -X/+X (5 cases) and chromosome X anomalies (3 cases) in lymphoid malignancies.

To be noted

The unbalanced der(18)t(1;18)(q10-25;q11-23) results in partial trisomy for the 1q segment and loss of genes from 18q leading to gene dosage abnormalities. May be detected in both hematologic neoplasms and lymphoid malignancies. Found in association with known primary anomalies in acute leukemias, indicating that this aberration is mostly a secondary event representing clonal evolution. Frequent chromosomal change in multiple myeloma and lymphoid neoplasms, where it is part of complex karyotypes associated with tumor progression advanced disease.

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Citation

This paper should be referenced as such :
Zamecnikova A, Al Bahar S
der(18)t(1;18)(q10-25;q11-23);
Atlas Genet Cytogenet Oncol Haematol. in press
On line version : http://AtlasGeneticsOncology.org/Anomalies/t118q10q11ID1655.html


Translocations implicated (Data extracted from papers in the Atlas)

 t(1;18)(q10-25;q11-23)

External links

Mitelman databaset(1;18)(q10-25;q11-23) [Case List]    t(1;18)(q10-25;q11-23) [Association List] Mitelman database (CGAP - NCBI)
arrayMapTopo ( C42) Morph ( 9811/3) - arrayMap (UZH-SIB Zurich)  [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMapTopo ( C42) Morph ( 9861/3) - arrayMap (UZH-SIB Zurich)  [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMapTopo ( C42) Morph ( 9989/3) - arrayMap (UZH-SIB Zurich)  [auto + random 100 samples .. if exist ]   [tabulated segments]
 
 
Disease databaseder(18)t(1;18)(q10-25;q11-23)
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed
All articlesautomatic search in PubMed


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