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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

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.

Keywords chromosome 1; chromosome 13; translocation; hematologic malignancies

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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 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.


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This paper should be referenced as such :
Adriana Zamecnikova, Soad Al Bahar
Unbalanced whole-arm translocation der(1;13) in hematologic malignancies
Atlas Genet Cytogenet Oncol Haematol. 2016;20(1):48-51.
Free journal version : [ pdf ]   [ DOI ]
On line version :

Translocations implicated (Data extracted from papers in the Atlas)


External links

Mitelman databaseder(1;13)(q10;q10)
arrayMap (UZH-SIB Zurich)Topo ( C42) Morph ( 9861/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMap (UZH-SIB Zurich)Topo ( C42) Morph ( 9975/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMap (UZH-SIB Zurich)Topo ( C42) Morph ( 9989/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
REVIEW articlesautomatic search in PubMed
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