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

2014-12-01   Soad Al Bahar , Adriana Zamecnikova 

1.Kuwait Cancer Control Center, Department of Hematology, Laboratory of Cancer Genetics, Kuwait annaadria@yahoo.com


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.

Clinics and Pathology


Myeloproliferative disorders, multiple myeloma and lymphoid malignancies

Phenotype stem cell origin

Reported in diverse hematologic disorders


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.


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).
Atlas Image
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


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.


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.

Genes Involved and Proteins

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


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.


Pubmed IDLast YearTitleAuthors
173213292007Loss of 17p is a major consequence of whole-arm chromosome translocations in hematologic malignancies.Adeyinka A et al
126456492003Karyotypic abnormalities in myelofibrosis following polycythemia vera.Andrieux J et al
212513222011Evidence-based genomic diagnosis characterized chromosomal and cryptic imbalances in 30 elderly patients with myelodysplastic syndrome and acute myeloid leukemia.Bajaj R et al
212338362011An 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 et al
27376671989Chromosomal characteristics of malignant lymphoma.Fleischman EW et al
127639272003ALK-positive diffuse large B-cell lymphoma is associated with Clathrin-ALK rearrangements: report of 6 cases.Gascoyne RD et al
77739611995Correlations of chromosome abnormalities with histologic and immunologic characteristics in 49 patients from Akita, Japan with non-Hodgkin lymphoma.Hashimoto K et al
80576691994N-ras mutation and karyotypic evolution are closely associated with leukemic transformation in myelodysplastic syndrome.Horiike S et al
125809562003Follicular lymphoma lacking the t(14;18)(q32;q21): identification of two disease subtypes.Horsman DE et al
187205232008Prognostic significance of secondary cytogenetic alterations in follicular lymphomas.Johnson NA et al
129303842003Multicolour fluorescence in situ hybridization analysis of t(14;18)-positive follicular lymphoma and correlation with gene expression data and clinical outcome.Lestou VS et al
116944012001Molecular cytogenetic characterization of acute myeloid leukemia and myelodysplastic syndromes with multiple chromosome rearrangements.Lindvall C et al
176546862007Chromosome aberrations in a series of 120 multiple myeloma cases with abnormal karyotypes.Mohamed AN et al
213255962011Myelodysplasia and leukemia of Fanconi anemia are associated with a specific pattern of genomic abnormalities that includes cryptic RUNX1/AML1 lesions.Quentin S 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
76279331995Cytogenetic findings in 200 patients with multiple myeloma.Sawyer JR et al
65748101983Cytogenetic studies of bone marrow and extramedullary tissues and clinical course during metamorphosis of chronic myelocytic leukemia.Swolin B et al
171892212006Multiple granulocytic sarcomas in essential thrombocythemia.Tanaka Y et al


Atlas Image
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).


Soad Al Bahar ; Adriana Zamecnikova

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

Atlas Genet Cytogenet Oncol Haematol. 2014-12-01

Online version: http://atlasgeneticsoncology.org/haematological/1653/unbalanced-whole-arm-translocation-der(1;13)-in-hematologic-malignancies

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