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t(5;14)(q35;q11) RANBP17 (or TLX3)/TRD

Written2016-12Hélène Bruyère
Genetics Laboratory, Department of Pathology and Laboratory Medicine, Vancouver General Hospital and Department of Pathology and Laboratory Medicine, University of British Columbia/ helene.bruyere@vch.ca

Abstract Review on t(5;14)(q35;q11), with data on clinics and the genes involved.

Keywords Chromosome 5; chromosome 14; t(5;14)(q35;q11); RANBP17; TRD; TLX3; Acute lymphoblastic leukemia; Acute myeloid leukemia.

(Note : for Links provided by Atlas : click)

Identity

ICD-Topo C420,C421,C424
ICD-Morpho 9891/3 Acute monoblastic and monocytic leukaemia
ICD-Morpho 9811/3 B lymphoblastic leukaemia/lymphoma, NOS
ICD-Morpho 9837/3 T lymphoblastic leukaemia/lymphoma
Atlas_Id 1228

Clinics and Pathology

Disease Acute lymphoblastic leukemia (ALL)
Phenotype / cell stem origin T- and B-ALL
Epidemiology 5 patients to date, 4 pediatric cases (14 months, 2, 10 and 12 years) (Whitlock JA et al., 1994; Hansen-Hagge TE et al., 2002), 1 case with no clinical information (Hansen-Hagge et al., 2002, case 2)
Clinics One or more features of bulky disease.
Cytogenetics Sole abnormality in one case of T-ALL and one case of B-ALL relapse, additional abnormalities in 2 cases [B-ALL with subclones with dup(1)(q32q21), add(X)(p22), der(11)t(11;?)(?;?) and T-ALL with cytogenetically unrelated cell line with del(9)(p22) and trisomy 15 (t-ALL)], 2 cases not available].
Evolution The 2 patients with B-ALL were in remission 19 and 22 months after diagnosis. One patient with T-ALL relapsed at 6 months and the second patient with T-ALL developed AML 17 months after diagnosis, with the t(5;14) being present in the myeloblasts.

Disease Acute myeloid leukemia, FAB M5 (Welborn JL et al., 1993)
Note Secondary abnormality.
Epidemiology 1 case to date, a 45-year-male.
Cytogenetics The t(5;14)(q35;q11) was found in a follow-up specimen together with the primary abnormality, t(6;11)(q27;q23), identified in the sample obtained at diagnosis.
Genes The genes involved in the translocation t(5;14) identified in this AML case have not been investigated and may be different from those of the t(5;14) found in the ALL cases.
Treatment 2 inductions with standard dose cytarabine - daunorubicin - 6-thioguanine.
Evolution No response to treatment.

Genes involved and Proteins

Gene NameRANBP17 (RAN binding protein 17)
Location 5q35.1
Note The 5q breakpoint was initially reported to be located at 5q34 (Hansen-Hagge et al., 2002), but the location of the gene potentially disrupted by the translocation is 5q35.1 in the hg38 assembly (UCSC Genome Browser, accessed Dec. 9th, 2016)
. However, Harsen-Hagge et al., 2002, mention that the 5q breakpoint is also in the vinicity of the TLX3 gene, which involvement was neither confirmed nor excluded. This gene has been involved in other ALL rearrangements and encodes a DNA-binding nuclear transcription factor (see Atlas t(5;7)(q35;q21), t(5;14)(q35;q32)).
Dna / Rna The RANBP17 gene has 28 exons and spans 438 kb (hg38, UCSC Genome Browser, accessed Dec. 9th, 2016). Several transcripts have been identified, of 2,5, 4,5, 7,5 and 10 kb (Koch et al., 2000).
Protein The Ran-binding protein 17 is 90-130 kD in size and contains an importin- β N-terminal domain.
The RAN-binding protein-17 gene is a member of the importin-beta superfamily of nuclear transport receptors. Its protein is localized in the nucleus, with a restricted expression pattern in the testis (Koch P et al., 2000). It is a regulator of the E2A protein's action (Lee et al., 2010).
Gene NameTLX3 (T-cell leukemia, homeobox protein 3)
Location 5q35.1
Note See above
Location 14q11.2

Result of the chromosomal anomaly

Hybrid gene
Description In one case, exon 24 of RANBP17 was found to be joined to TCR Dδ2Dδ3Jδ1 and containing the δ enhancer sequence located between the Jδ1 and Cδ elements, while in a second case, data suggested an illegitimate recombination of TCR δ with sequences from chromosome 14 and 5, the 5q breakpoint being about 8 kb downstream of the last RANBP17 exon (and about 1KB upstream from TLX3) . There was an increased RANBP17 expression in the leukemic cells (Harsen-Hagge et al., 2002) .
  

To be noted

Additional cases are needed to delineate the epidemiology of this rare entity:
you are welcome to submit a paper to our new Case Report section.

Bibliography

Intravascular macrophages in pulmonary capillaries of humans
Dehring DJ, Wismar BL
Am Rev Respir Dis 1989 Apr;139(4):1027-9
PMID 2930062
 
Disruption of the RanBP17/Hox11L2 region by recombination with the TCRdelta locus in acute lymphoblastic leukemias with t(5;14)(q34;q11)
Hansen-Hagge TE, Schäfer M, Kiyoi H, Morris SW, Whitlock JA, Koch P, Bohlmann I, Mahotka C, Bartram CR, Janssen JW
Leukemia 2002 Nov;16(11):2205-12
PMID 12399963
 
Identification of a novel putative Ran-binding protein and its close homologue
Koch P, Bohlmann I, Schäfer M, Hansen-Hagge TE, Kiyoi H, Wilda M, Hameister H, Bartram CR, Janssen JW
Biochem Biophys Res Commun 2000 Nov 11;278(1):241-9
PMID 11071879
 
Unique clinical features and prognostic significance of the translocation (6;11) in acute leukemia
Welborn JL, Jenks HM, Hagemeijer A
Cancer Genet Cytogenet 1993 Feb;65(2):125-9
PMID 8453597
 
t(5;14)(q33-34;q11), a new recurring cytogenetic abnormality in childhood acute leukemia
Whitlock JA, Raimondi SC, Harbott J, Morris SW, McCurley TL, Hansen-Hagge TE, Ludwig WD, Weimann G, Bartram CR
Leukemia 1994 Sep;8(9):1539-43
PMID 8090032
 

Citation

This paper should be referenced as such :
Bruyère H
t(5;14)(q35;q11) RANBP17 (or TLX3)/TRD;
Atlas Genet Cytogenet Oncol Haematol. in press
On line version : http://AtlasGeneticsOncology.org/Anomalies/t0514q35q11ID1228.html


Other genes implicated (Data extracted from papers in the Atlas) [ 1 ]

Genes TLX3

Translocations implicated (Data extracted from papers in the Atlas)

 t(5;14)(q35;q11) RANBP17/TRD
 t(5;14)(q35;q11) TLX3/TRD

External links

Mitelman databaset(5;14)(q35;q11) [Case List]    t(5;14)(q35;q11) [Association List] Mitelman database (CGAP - NCBI)
Mitelman databaset(5;14)(q35;q11) [Case List]    t(5;14)(q35;q11) [Association List] Mitelman database (CGAP - NCBI)
arrayMapMorph ( 9891/3) - arrayMap (UZH-SIB Zurich)  [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMapMorph ( 9811/3) - arrayMap (UZH-SIB Zurich)  [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMapMorph ( 9837/3) - arrayMap (UZH-SIB Zurich)  [auto + random 100 samples .. if exist ]   [tabulated segments]
 
 
Disease databaset(5;14)(q35;q11) RANBP17 (or TLX3)/TRD
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed
All articlesautomatic search in PubMed


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