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der(20)t(1;20)(q10-21;q11-13)

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

Abstract Review on t(1;20)(q10-21;q11-13), with data on clinics.

(Note : for Links provided by Atlas : click)

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 9975/3 Chronic myelogenous leukaemia, BCR-ABL1 positive; Myeloproliferative neoplasm, unclassifiable; Myelodysplastic/myeloproliferative neoplasm, unclassifiable
ICD-Morpho 9989/3 Myelodysplastic syndrome, unclassifiable
Atlas_Id 1657
 
  Partial karyotypes showing the unbalanced t(20)t(q10;q11).

Clinics and Pathology

Disease Acute myeloid leukemia (AML), acute lymphoblastic leukemia (ALL), myeloproliferative neoplasm (MPN), Myelodysplastic syndrome (MDS), multiple myeloma (MM), Burkitt lymphomas and non-Burkitt type lymphomas.
Phenotype / cell stem origin Suggested involvement of a pluripotent stem cell.
Epidemiology Rare karyotypic event in various hematologic malignancies; AML/MDS (5 cases), ALL (4 cases), MPN (2 cases), MM (4 cases), lymphoma (4 cases). Male predominance (15 males/ 3 females); patients ages ranged from 1 to 73 years; described mainly in adults (aged 28 to 73 years); all the 4 ALL patients were children (aged 1 to 7 years) (Table 1).

 

Sex

Age

Karyotype

Diagnosis

Reference

1

M

49

46,XY,t(3;11)(p13;q21)/46,XY,der(20)t(1;20)(q21;q13) biclonal clones

PV

Wan et al; 2001

2

F

 

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)

MDS
Fanconi anemia

Alter et al; 2000

3

M

38

47,XY,+?der(1)t(1;20)(q21;q11)del(1)(p11),-9,t(9;22)(q34;q11),+18,der(20)t (1;20)(q21;q11)

CML

Mori et al; 1997

4

M

30

46,XY,t(11;12)(q13;p13)/46,idem,der(9)t(1;9)(q12;p24)/46,idem,der(14)t(1;14)(q12;p10)/46,idem,der(20)t(1;20)(q12;q13)/46,idem,der(21)t(1;21) (q12;q10)

AML-M5

Itzhar et al; 2011

5

F

 

46,XX,der(20)t(1;20)(q21;q13)

AML

Raimondi et al;1999

6

M

34

47,XY,t(9;22)(q34;q11),t(10;21)(p11;q22),der(20)t(1;20)(q21;q13),+der(22)t (9;22)/48,idem,+8

AML-M1

Sasaki et al; 1983

7

F

7

56,XX,+X,+X,t(2;16)(p12;q12),+4,+5,+6,+10,+18,der(20)t(1;20)(q12;q13),+21, +21,+mar

ALL

Busson-Le Coniat et al; 1999

8

M

 

56,XY,+X,+Y,+5,+6,i(7)(q10),+9,+10,+11,+18,der(20)t(1;20)(q12;q13),+21,+22

ALL

Hereema et al; 2004

9

F

1

46,XX,t(4;11)(q21;q23),der(20)t(1;20)(q11;q13)

ALL

Prigogina et al; 1998

10

M

4

45,X,-Y,der(20)t(1;20)(q21;q13)

B-ALL

Raimondi et al; 2003

11

M

59

47,XY,der(16)t(1;16)(q21;q11),+der(19)t(1;19)(q21;q13),der(20)t(1;20) (q21;q11)

MM

Keung et al; 1999

12

M

73

42,X,-Y,del(1)(p13p22),der(1;7)t(1;7)(p13;?p22)ins(1;?)(p13;?),del(2)(q31q37), dic(7;9)(p15;q34),-8,-9,der(10)t(8;10)(q11;p12),-13,add(15)(q26), der(20)t(1;20) (q12;q13)

MM

Mohamed et al; 2007

13

M

54

54,XY,+3,+5,+9,+9,+15,+15,del(18)(q22),+19,der(20)t(1;20)(q21;q13),+21

MM

Mohamed et al; 2007

14

M

 

51-54,XY,+1,der(1;16)(q10;p10),+3,t(4;18)(p14;p11),del(6)(q25),del(6)(q23), +del(6)(q11),+7,+9,add(11)(q23),-13,+15,+18,der(20)t(1;20)(q12;q13),+mar

MM

Sawyer et al; 1998

15

F

28

46,XX,t(14;18)(q32;q21)/47,idem,+12/47,idem,t(5;7)(q22;q32),+12/47,idem,+12, der(20)t(1;20)(q21;q13) lymph node

FL B-cell

Horsman et al; 2001

16

M

 

47,XY,del(2)(q21q31),t(3;22)(q27;q11),del(6)(q13q15),der(8)t(2;8)(q21;q24), +11,der(20)t(1;20)(q21;q13) lymph node

DLBCL

Itoyama et al; 2002

17

M

2

46,XY,i(6)(p10),t(8;14)(q24;q32),der(20)t(1;20)(q21;q13) lymph node

BL

Lones et al; 2004

18

M

73

48,Y,t(X;1)(q28;p22),+Y,t(5;12;16)(p14;q24;p13),der(6)t(6;18)(q13;q21),-8, del(8)(p21),+add(9)(q22),add(12)(p11),der(18)t(8;18)(q11;q21),der(19)t(12;19) (p11;q13),del(20)(q13),der(20)t(1;20)(q21;q11),+mar lymph node

B-cell
lymphoma

Shimazaki et al; 1999

Abbreviations: PV, Polycythemia vera; MDS, myelodysplastic syndrome; CML, Chronic myeloid leukemia; ALL, acute lymphoblastic leukemia; FL, follicular lymphoma, DLBCL, diffuse large B-cell lymphoma; BL, Burkitt lymphoma/leukemia; MM, multiple myeloma.

CLINICS
Prognosis Seems to confer a poor prognosis.

Cytogenetics

Cytogenetics Morphological Cytogenetically heterogeneous, the breakpoints in 1q varied from 1q10 to 1q21, with a clustering to 1q21, and the 20q breaks occurred in 20q10 to 20q13, mainly in the 20q13 region.
Additional anomalies Usually present with additional chromosomal abnormalities; may be found together with well-known primary abnormalities such as t(9;22)(q34;q11), t(4;11)(q21;q23), and t(14;18)(q32;q21), t(8;14)(q24;q32).

Result of the chromosomal anomaly

Fusion Protein
Oncogenesis Unbalanced translocations involving all or part of the long arms of chromosomes 1 and 20 are found in both hematologic neoplasms and lymphomas. The abnormality is usually present with complex pattern of rearrangements or occurring in a subclone; indicating that der(20)t(1;20) might be a secondary aberration. The extra copy of 1q segment and/ or 20q monosome may directly or indirectly provide a proliferative advantage leading to clonal evolution associated with tumor progression and advanced disease.
  

Bibliography

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Cancer Genet Cytogenet 2000 Mar;117(2):125-31
PMID 10704682
 
Fluorescence in situ hybridization analyses of hematologic malignancies reveal frequent cytogenetically unrecognized 12p rearrangements
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Leukemia 1998 Mar;12(3):390-400
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Fluorescence in situ hybridization analysis of chromosome 1 abnormalities in hematopoietic disorders: rearrangements of DNA satellite II and new recurrent translocations
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Deletion of 7p or monosomy 7 in pediatric acute lymphoblastic leukemia is an adverse prognostic factor: a report from the Children's Cancer Group
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Leukemia 2004 May;18(5):939-47
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Analysis of secondary chromosomal alterations in 165 cases of follicular lymphoma with t(14;18)
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Genes Chromosomes Cancer 2001 Apr;30(4):375-82
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Molecular cytogenetic analysis of genomic instability at the 1q12-22 chromosomal site in B-cell non-Hodgkin lymphoma
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"Jumping translocation" and multiple myeloma
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Chromosome abnormalities may correlate with prognosis in Burkitt/Burkitt-like lymphomas of children and adolescents: a report from Children's Cancer Group Study CCG-E08
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Allelotype analysis in the evolution of chronic myelocytic leukemia
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Citation

This paper should be referenced as such :
Zamecnikova A, al Bahar S
der(20)t(1;20)(q10-21;q11-13);
Atlas Genet Cytogenet Oncol Haematol. in press
On line version : http://AtlasGeneticsOncology.org/Anomalies/t0120q10q11ID1657.html


Translocations implicated (Data extracted from papers in the Atlas)

 t(1;20)(q10-21;q11-13)

External links

Mitelman databaset(1;20)(q10-21;q11-13) [Case List]    t(1;20)(q10-21;q11-13) [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 ( 9975/3) - 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(20)t(1;20)(q10-21;q11-13)
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed
All articlesautomatic search in PubMed


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