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

2015-06-01   Soad Al Bahar , Adriana Zamecnikova 

1.Kuwait Cancer Control Center, Laboratory of Cancer Genetics, Department of Hematology, Shuwaikh, 70653, Kuwait

Clinics and Pathology

Disease

Acute myeloid leukemia (AML), acute lymphocycic leukemia (ALL), multiple myeloma (MM) and lymphoid neoplasms

Phenotype stem cell 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.

Bibliography

Pubmed IDLast YearTitleAuthors
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102143631999A second known case of Down syndrome with t(1;18)(q25;q23) in leukemic cells.Brozek I et al
29723561988Cytogenetic findings in leukemic cells of 56 patients with constitutional chromosome abnormalities. A cooperative study. Groupe Français de Cytogénétique Hématologique.
162836192006Post-transplant lymphoproliferative disorder subtypes correlate with different recurring chromosomal abnormalities.Djokic M et al
20943221990Clonal karyotype abnormalities and clinical progress in the myelodysplastic syndrome.Geddes AA et al
95520251998Frequency and clinical significance of cytogenetic abnormalities in pediatric T-lineage acute lymphoblastic leukemia: a report from the Children's Cancer Group.Heerema NA et al
187205232008Prognostic significance of secondary cytogenetic alterations in follicular lymphomas.Johnson NA et al
152772222004Cytogenetic alterations affecting BCL6 are predominantly found in follicular lymphomas grade 3B with a diffuse large B-cell component.Katzenberger T et al
37907301987Cytogenetic and histologic correlations in malignant lymphoma.Koduru PR 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
119185402002Influence of karyotype on outcome of allogeneic bone marrow transplantation for adults with precursor B-lineage acute lymphoblastic leukaemia in first or second remission.Lee S et al
190274892008Jumping translocations in hematological malignancies: a cytogenetic study of five cases.Manola KN et al
31938111988Detection of karyotypic abnormalities in most patients with acute nonlymphocytic leukemia by adding ethidium bromide to short-term cultures.Misawa S et al
176546862007Chromosome aberrations in a series of 120 multiple myeloma cases with abnormal karyotypes.Mohamed AN et al
239297562013PCDH10 promoter hypermethylation is frequent in most histologic subtypes of mature lymphoid malignancies and occurs early in lymphomagenesis.Narayan G et al
95987981998Chromosomal abnormalities in nodal and extranodal CD30+ anaplastic large cell lymphomas: infrequent detection of the t(2;5) in extranodal lymphomas.Ott G et al
99739251999Jumping translocation of 1q as the sole aberration in a case of follicular lymphoma.Rosenwald A et al
187096642008Multiple recurrent chromosomal breakpoints in mantle cell lymphoma revealed by a combination of molecular cytogenetic techniques.Salaverria I et al
98342331998Identification of new nonrandom translocations in multiple myeloma with multicolor spectral karyotyping.Sawyer JR et al
244975332014Jumping translocations of 1q12 in multiple myeloma: a novel mechanism for deletion of 17p in cytogenetically defined high-risk disease.Sawyer JR et al
31080921987Chromosome studies in human hematologic diseases: non-Hodgkin's lymphomas.Slavutsky I et al
119433522002Acute myelomonocytic leukemia with t(1;18) in an adult patient.Zámecníkova A et al

Summary

Atlas Image
Partial karyotypes with der(18)t(1;18)(q10;q11)

Citation

Soad Al Bahar ; Adriana Zamecnikova

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

Atlas Genet Cytogenet Oncol Haematol. 2015-06-01

Online version: http://atlasgeneticsoncology.org/haematological/1655/der(18)t(1;18)(q10-25;q11-23)

External Links