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

2015-06-01   Adriana Zamecnikova  , Soad Al Bahar  

1.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.

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 stem cell 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).

Genes Involved and Proteins

Result of the Chromosomal Anomaly

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.

Article Bibliography

Pubmed IDLast YearTitleAuthors
107046822000Fanconi anemia: myelodysplasia as a predictor of outcome.Alter BP et al
95291341998Fluorescence in situ hybridization analyses of hematologic malignancies reveal frequent cytogenetically unrecognized 12p rearrangements.Andreasson P et al
106024181999Fluorescence in situ hybridization analysis of chromosome 1 abnormalities in hematopoietic disorders: rearrangements of DNA satellite II and new recurrent translocations.Busson-Le Coniat M et al
149992942004Deletion of 7p or monosomy 7 in pediatric acute lymphoblastic leukemia is an adverse prognostic factor: a report from the Children's Cancer Group.Heerema NA et al
112417902001Analysis of secondary chromosomal alterations in 165 cases of follicular lymphoma with t(14;18).Horsman DE et al
123785262002Molecular cytogenetic analysis of genomic instability at the 1q12-22 chromosomal site in B-cell non-Hodgkin lymphoma.Itoyama T et al
213398202011Chromosomal minimal critical regions in therapy-related leukemia appear different from those of de novo leukemia by high-resolution aCGH.Itzhar N et al
104329391999"Jumping translocation" and multiple myeloma.Keung YK et al
151256092004Chromosome abnormalities may correlate with prognosis in Burkitt/Burkitt-like lymphomas of children and adolescents: a report from Children's Cancer Group Study CCG-E08.Lones MA et al
176546862007Chromosome aberrations in a series of 120 multiple myeloma cases with abnormal karyotypes.Mohamed AN et al
92925361997Allelotype analysis in the evolution of chronic myelocytic leukemia.Mori N et al
108618102000Many unbalanced translocations show duplication of a translocation participant. Clinical and cytogenetic implications in myeloid hematologic malignancies.Pedersen B et al
31632591988Nonrandom chromosomal abnormalities in acute lymphoblastic leukemia of childhood.Prigogina EL et al
146692942003Reassessment of the prognostic significance of hypodiploidy in pediatric patients with acute lymphoblastic leukemia.Raimondi SC et al
65739471983Cytogenetic characterization of ten cases of Ph1-positive acute myelogenous leukemia.Sasaki M 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
101924251999B-cell lymphoma associated with haemophagocytic syndrome: a clinical, immunological and cytogenetic study.Shimazaki C et al
145066972003Further cytogenetic characterization of multiple myeloma confirms that 14q32 translocations are a very rare event in hyperdiploid cases.Smadja NV et al
117343262001Cytogenetic biclonality in polycythemia vera: unusual and unrelated clones.Wan TS et al

Summary

Atlas Image
Partial karyotypes showing the unbalanced t(20)t(q10;q11).

Citation

Adriana Zamecnikova ; Soad Al Bahar

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

Atlas Genet Cytogenet Oncol Haematol. 2015-06-01

Online version: http://atlasgeneticsoncology.org/haematological/1657/der(20)t(1