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t(6;14)(p25.3;q11.2) TRA/IRF4

Written2013-03Andrew L Feldman
Department of Laboratory Medicine, Pathology, College Of Medicine, Mayo Clinic, 200 First Street SW, Hilton Building, Room 11-52D, Rochester, MN 55905 USA

(Note : for Links provided by Atlas : click)

Identity

ICD-Topo C420,C421,C424 BLOOD, BONE MARROW, & HEMATOPOIETIC SYS
Atlas_Id 1606

Clinics and Pathology

Disease Peripheral T-cell lymphoma, not otherwise specified (PTCL, NOS)
Phenotype / cell stem origin Mature (peripheral) cytotoxic alpha-beta T-cell origin.
Etiology No etiologic factors are known.
Epidemiology Adult males (age range, 67-82 years).
Clinics Presentation with cytopenias in the absence of lymphadenopathy, sometimes with skin involvement.
Pathology The bone marrow is hypercellular with the normal marrow elements replaced by an extensive infiltrate of atypical, mostly medium-sized lymphoid cells with irregular nuclear outlines. Admixed plasma cells and a background of reticulin fibrosis are present. The tumor cells display an abnormal T-cell phenotype with expression of CD3, the cytotoxic marker TIA1 (+/- granzyme B), and T-cell receptor-beta (beta-F1), but without coexpression of CD5. Most cases express CD4 and lack expression of CD25 and CD30. IRF4/MUM1 protein is expressed in tumor cell nuclei. Cases tested for EBV by in situ hybridization have been negative.
 
(A) Atypical lymphocytes in bone marrow smear from patient with PTCL, NOS with t(6;14)(p25.3;q11.2) (Wright-Giemsa, original magnification x1000). (B) Bone marrow trephine biopsy (H&E, x400). Tumor cells are (C) positive for CD2, (D) negative for CD5, (E) positive for granzyme B, and (F) positive for nuclear IRF4/MUM1 (x400).
Treatment No treatment data are available.
Prognosis The prognosis has not been established.

Cytogenetics

Cytogenetics Morphological The rearrangement can be detected in standard G-banded karyotype.
 
  t(6;14)(p25.3;q11.2) [G-banding].
Cytogenetics Molecular The rearrangement can be detected using dual-fusion fluorescence in situ hybridization with probes to the IRF4 and TCR@ loci.

Genes involved and Proteins

Note The IRF4/MUM1 protein is expressed in cases with t(6;14)(p25.3;q11.2). This expression likely results from the translocation, but this has not been proved.
Gene Name IRF4
Location 6p25.3
Dna / Rna Nine-exon gene on 6p25.3.
Protein The gene encodes interferon regulatory factor-4 (IRF4)/multiple myeloma oncogene-1 (MUM1), a transcription factor in the IRF family. Its expression limited mainly to lymphocytes and is critical in lymphocyte activation.
Gene Name TRA
Location 14q11.2
Note Other name: TRA@.
Dna / Rna ~ 1Mb on 14q11.2 containing TCR alpha V, J, and C regions, as well as the TCR-delta locus.
Protein TRA@ encodes the T-cell receptor-alpha chains, translated from transcripts resulting from rearrangement of the TRAV and TRAJ regions and from TRAC.

Result of the chromosomal anomaly

Hybrid gene
Note No RNA studies have been reported on cases with t(6;14)(p25.3;q11.2). Most translocations involving TRA@ in T-cell neoplasia do not produce fusion transcripts.
  
Fusion Protein
Note No studies of potential fusion proteins have been reported on cases with t(6;14)(p25.3;q11.2). Most translocations involving TRA@ in T-cell neoplasia do not produce fusion proteins.
  

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

Recurrent translocations involving the IRF4 oncogene locus in peripheral T-cell lymphomas.
Feldman AL, Law M, Remstein ED, Macon WR, Erickson LA, Grogg KL, Kurtin PJ, Dogan A.
Leukemia. 2009 Mar;23(3):574-80. doi: 10.1038/leu.2008.320. Epub 2008 Nov 6.
PMID 18987657
 
IRF4: Immunity. Malignancy! Therapy?
Shaffer AL, Emre NC, Romesser PB, Staudt LM.
Clin Cancer Res. 2009 May 1;15(9):2954-61. doi: 10.1158/1078-0432.CCR-08-1845. Epub 2009 Apr 21. (REVIEW)
PMID 19383829
 

Citation

This paper should be referenced as such :
Feldman, AL
t(6;14)(p25.3;q11.2) TRA/IRF4
Atlas Genet Cytogenet Oncol Haematol. 2013;17(9):645-646.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Anomalies/t0614p25q11ID1606.html


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

Genes IRF4

Translocations implicated (Data extracted from papers in the Atlas)

 t(6;14)(p25.3;q11.2) TRA/IRF4

External links

arrayMap (UZH-SIB Zurich)TRA (-) IRF4 (6p25.3)

Mitelman databaset(6;14)(p25.3;q11.2) [Case List]    t(6;14)(p25.3;q11.2) [Association List] Mitelman database (CGAP - NCBI)
arrayMap[select an item]
 
Mitelman databaseTRA/IRF4 [MCList]  TRA (-) IRF4 (6p25.3)
 
Disease databaset(6;14)(p25.3;q11.2) TRA/IRF4
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed
All articlesautomatic search in PubMed


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