Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

Unbalanced whole-arm translocation der(1;13) in hematologic malignancies

Written2014-12Adriana Zamecnikova, Soad Al Bahar
Kuwait Cancer Control Center, Department of Hematology, Laboratory of Cancer Genetics, Kuwait annaadria@yahoo.com

Abstract Whole-arm chromosome translocations involving the long arm of chromosome 1 are nonrandom aberrations in hematologic malignancies that commonly involve acrocentric chromosomes. Among them, unbalanced whole-arm translocations between chromosomes 1 and 13 are relatively rare cytogenetic aberrations and has been reported in both lymphoid and myeloid neoplasms.

(Note : for Links provided by Atlas : click)

Identity

ICD-Topo C420,C421,C424 BLOOD, BONE MARROW, & HEMATOPOIETIC SYS
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 1653
 
  G-banded partial karyogram of bone marrow cells showing the der(1;13)(q10;q10) chromosome. Fluorescence in situ hybridization with Vysis (Abbott Molecular) LSI 1p36 (red)/ 1q25 (green) and LSI Rb (red) probes showing an extra green signal located on 1q25 on the der(1;13)(q10;q10) chromosome (arrow).

Clinics and Pathology

Disease Myeloproliferative disorders, multiple myeloma and lymphoid malignancies
Phenotype / cell stem origin Reported in diverse hematologic disorders
Etiology Different factors like constitutional fragility of the 1q heterochromatin, cytotoxic drugs, ionizing radiation and/or oncogenic viruses are suspected to be implicated in the origin of 1q rearrangements.
Epidemiology Reported at least in 20 cases (Table 1); median age 52 years (range 20-86), balanced sex ratio (11M/9F). Found in: chronic myeloproliferative disorders (8 of the 20 available cases): polycythemic myelofibrosis (PPMF) in 1 case, essential trombocytopenia (ET) in 1 case, chronic myeloid leukemia (CML) in 1 case; myelodysplastic syndromes (MDS) in transformation in 3 patients as well as in acute myeloid leukaemia (2 patients), multiple myeloma (4 patients) and in lymphoid malignancies (8 patients).
 
Abbreviations: Ref., reference; PPMF, postpolycythemic myelofibrosis; f, female; m, male; MDS, myelodysplastic syndrome; FA, Fanconi anemia; CML, chronic myeloid leukemia; AML, acute myeloid leukemia; ET, essential thrombocythemia; MM, multiple myeloma; DLBCL, diffuse large B-cell lymphoma.
Chromosome anomalies detected in the lymph node.
Reference : 1. Swolin et al., 1983; 2. Fleischman et al., 1989; 3. Horiike et al., 1994; 4. Hashimoto et al., 1995; 5. Sawyer et al., 1995; 6. Sawyer et al., 1998; 7. Lindvall et al., 2001; 8. Andrieux et al., 2003; 9. Gascoyne et al., 2003; 10. Horsman et al., 2003; 11. Lestou et al., 2003; 12. Tanaka et al., 2006; 13. Adeyinka et al., 2007; 14. Mohamed et al., 2007; 15. Johnson et al., 2008; 16. Bajaj et al., 2011; 17. Flach et al., 2011; 18. Quentin et al., 2011; 19. Sawyer et al., 2014
Evolution Whether karyotypic changes associated with extra copies of 1q are primary events or they are induced during disease evolution as a side effect of cytotoxic treatments is unclear. May be found as a sole anomaly in chronic myeloproliferative disorders (Andrieux et al, 2003; Tanaka et al, 2006), indicating that der(1;13) might be a primary change in myeloid disorders. Occurred as part of complex karyotypes in multiple myeloma and lymphoproliferative malignancies, suggesting that 1q abnormalities may be secondary events in these diseases representing clonal evolution associated with natural disease evolution.
Prognosis It is likely that the prognosis depends on the patient diagnosis in myeloid malignancies (chronic disease versus acute leukemia). Prognosis in multiple myeloma and lymphoid malignancies is uncertain.

Cytogenetics

Cytogenetics Morphological Presents as -13, + der(1;13)(q10;q10); less frequently as der(1;13)(p10;q10) or der(1;13)(q10;p10)

Genes involved and Proteins

Note Genes involved are unknown; the region 1q21-1q32 has been suggested to contain oncogenes that are involved in disease pathogenesis

Result of the chromosomal anomaly

Fusion Protein
Oncogenesis Acquired whole-arm chromosome translocations with involvement of the 1q heterochromatin are accompanied by genomic imbalances in hematologic malignancies. The chromosome 1 pericentromeric heterochromatin is a notoriously an unstable chromosomal region that is involved in diverse chromosomal rearrangements leading to gene dosage abnormalities. The acquisition of the long arm of chromosome 1 results in trisomy of the whole-arm of chromosome 1 and partial monosomy of the involved chromosome. Duplication of the chromosome segment of 1q11-1q32 is commonly observed in these rearrangements, indicating that certain chromosome 1 regions, especially 1q21-1q32 might harbor pathogenetically relevant oncogenes. The unbalanced nature of the der(1;13)(q10;q10) indicates that the gain of 1q may play an important role in neoplastic transformation and/or disease progression. Although a der(1;13)(q10;q10) translocation has been reported in various neoplastic conditions, such as multiple myeloma and lymphoma, this translocation is also observed in both chronic and acute myeloid disorders. The observation of this anomaly was closely associated with leukemic transformation in myeloid malignancies suggesting that der(1;13)(q10;q10) might be a rare but nonrandom primary change in these disorders preceding or accompanying disease evolution.
  

Bibliography

Loss of 17p is a major consequence of whole-arm chromosome translocations in hematologic malignancies
Adeyinka A, Wei S, Sanchez J
Cancer Genet Cytogenet 2007 Mar;173(2):136-43
PMID 17321329
 
Karyotypic abnormalities in myelofibrosis following polycythemia vera
Andrieux J, Demory JL, Caulier MT, Agape P, Wetterwald M, Bauters F, Laï JL
Cancer Genet Cytogenet 2003 Jan 15;140(2):118-23
PMID 12645649
 
Evidence-based genomic diagnosis characterized chromosomal and cryptic imbalances in 30 elderly patients with myelodysplastic syndrome and acute myeloid leukemia
Bajaj R, Xu F, Xiang B, Wilcox K, Diadamo AJ, Kumar R, Pietraszkiewicz A, Halene S, Li P
Mol Cytogenet 2011 Jan 20;4:3
PMID 21251322
 
An accumulation of cytogenetic and molecular genetic events characterizes the progression from MDS to secondary AML: an analysis of 38 paired samples analyzed by cytogenetics, molecular mutation analysis and SNP microarray profiling
Flach J, Dicker F, Schnittger S, Schindela S, Kohlmann A, Haferlach T, Kern W, Haferlach C
Leukemia 2011 Apr;25(4):713-8
PMID 21233836
 
Chromosomal characteristics of malignant lymphoma
Fleischman EW, Prigogina EL, Ilynskaya GW, Probatova NA, Konstantinova LN, Kruglova GV, Volkova MA, Osmanov DS
Hum Genet 1989 Jul;82(4):343-8
PMID 2737667
 
ALK-positive diffuse large B-cell lymphoma is associated with Clathrin-ALK rearrangements: report of 6 cases
Gascoyne RD, Lamant L, Martin-Subero JI, Lestou VS, Harris NL, Müller-Hermelink HK, Seymour JF, Campbell LJ, Horsman DE, Auvigne I, Espinos E, Siebert R, Delsol G
Blood 2003 Oct 1;102(7):2568-73
PMID 12763927
 
Correlations of chromosome abnormalities with histologic and immunologic characteristics in 49 patients from Akita, Japan with non-Hodgkin lymphoma
Hashimoto K, Miura I, Chyubachi A, Saito M, Miura AB
Cancer Genet Cytogenet 1995 May;81(1):56-65
PMID 7773961
 
N-ras mutation and karyotypic evolution are closely associated with leukemic transformation in myelodysplastic syndrome
Horiike S, Misawa S, Nakai H, Kaneko H, Yokota S, Taniwaki M, Yamane Y, Inazawa J, Abe T, Kashima K
Leukemia 1994 Aug;8(8):1331-6
PMID 8057669
 
Follicular lymphoma lacking the t(14;18)(q32;q21): identification of two disease subtypes
Horsman DE, Okamoto I, Ludkovski O, Le N, Harder L, Gesk S, Siebert R, Chhanabhai M, Sehn L, Connors JM, Gascoyne RD
Br J Haematol 2003 Feb;120(3):424-33
PMID 12580956
 
Prognostic significance of secondary cytogenetic alterations in follicular lymphomas
Johnson NA, Al-Tourah A, Brown CJ, Connors JM, Gascoyne RD, Horsman DE
Genes Chromosomes Cancer 2008 Dec;47(12):1038-48
PMID 18720523
 
Multicolour fluorescence in situ hybridization analysis of t(14;18)-positive follicular lymphoma and correlation with gene expression data and clinical outcome
Lestou VS, Gascoyne RD, Sehn L, Ludkovski O, Chhanabhai M, Klasa RJ, Husson H, Freedman AS, Connors JM, Horsman DE
Br J Haematol 2003 Sep;122(5):745-59
PMID 12930384
 
Molecular cytogenetic characterization of acute myeloid leukemia and myelodysplastic syndromes with multiple chromosome rearrangements
Lindvall C, Nordenskjö M, Porwit A, Björkholm M, Blennow E
Haematologica 2001 Nov;86(11):1158-64
PMID 11694401
 
Chromosome aberrations in a series of 120 multiple myeloma cases with abnormal karyotypes
Mohamed AN, Bentley G, Bonnett ML, Zonder J, Al-Katib A
Am J Hematol 2007 Dec;82(12):1080-7
PMID 17654686
 
Myelodysplasia and leukemia of Fanconi anemia are associated with a specific pattern of genomic abnormalities that includes cryptic RUNX1/AML1 lesions
Quentin S, Cuccuini W, Ceccaldi R, Nibourel O, Pondarre C, Pagès MP, Vasquez N, Dubois d'Enghien C, Larghero J, Peffault de Latour R, Rocha V, Dalle JH, Schneider P, Michallet M, Michel G, Baruchel A, Sigaux F, Gluckman E, Leblanc T, Stoppa-Lyonnet D, Preudhomme C, Socié G, Soulier J
Blood 2011 Apr 14;117(15):e161-70
PMID 21325596
 
Identification of new nonrandom translocations in multiple myeloma with multicolor spectral karyotyping
Sawyer JR, Lukacs JL, Munshi N, Desikan KR, Singhal S, Mehta J, Siegel D, Shaughnessy J, Barlogie B
Blood 1998 Dec 1;92(11):4269-78
PMID 9834233
 
Jumping translocations of 1q12 in multiple myeloma: a novel mechanism for deletion of 17p in cytogenetically defined high-risk disease
Sawyer JR, Tian E, Heuck CJ, Epstein J, Johann DJ, Swanson CM, Lukacs JL, Johnson M, Binz R, Boast A, Sammartino G, Usmani S, Zangari M, Waheed S, van Rhee F, Barlogie B
Blood 2014 Apr 17;123(16):2504-12
PMID 24497533
 
Cytogenetic findings in 200 patients with multiple myeloma
Sawyer JR, Waldron JA, Jagannath S, Barlogie B
Cancer Genet Cytogenet 1995 Jul 1;82(1):41-9
PMID 7627933
 
Cytogenetic studies of bone marrow and extramedullary tissues and clinical course during metamorphosis of chronic myelocytic leukemia
Swolin B, Weinfeld A, Waldenströ J, Westin J
Cancer Genet Cytogenet 1983 Jul;9(3):197-209
PMID 6574810
 
Multiple granulocytic sarcomas in essential thrombocythemia
Tanaka Y, Nagai Y, Mori M, Fujita H, Togami K, Kurata M, Matsushita A, Maeda A, Nagai K, Tanaka K, Takahashi T
Int J Hematol 2006 Dec;84(5):413-6
PMID 17189221
 

Citation

This paper should be referenced as such :
Zamecnikova A, Al Bahar S
Unbalanced whole-arm translocation der(1;13) in hematologic malignancies;
Atlas Genet Cytogenet Oncol Haematol. in press
On line version : http://AtlasGeneticsOncology.org/Anomalies/der0113q10q10ID1653.html


Translocations implicated (Data extracted from papers in the Atlas)

 der(1;13)(q10;q10)

External links

Mitelman databaseder(1;13)(q10;q10) [Case List]    der(1;13)(q10;q10) [Association List] Mitelman database (CGAP - NCBI)
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 databaseUnbalanced whole-arm translocation der(1;13) in hematologic malignancies
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed
All articlesautomatic search in PubMed


© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sat Jan 21 16:49:05 CET 2017


Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.