Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumors   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

t(7;14)(q21;q32) ERVW-1/IgH

Written2009-02Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers; CHU Poitiers Hospital, F-86021 Poitiers, France

(Note : for Links provided by Atlas : click)

Identity

ICD-Topo C420,C421,C424 BLOOD, BONE MARROW, & HEMATOPOIETIC SYS
Atlas_Id 1346
Note This translocation must not be confused with the t(7;14)(q21;q32) with CDK6/IgH involvement, seen in chronic lymphocytic leukaemia and in splenic marginal zone lymphoma (Corcoran et al., 1999; Hayette et al., 2003). There is also a case of acute myeloid leukaemia with t(7;14)(q21;q32) in a female patient, with no other data (Stephenson et al., 1995).

Clinics and Pathology

Disease Chronic lymphocytic leukaemia (CLL)
Epidemiology One case to date, a 64-year-old female patient (Wahbi et al., 1997).

Cytogenetics

Cytogenetics Morphological Sole anomaly.

Genes involved and Proteins

Gene NameERVW-1 (Endogenous Retroviral family W, Env (C7), member 1)
Location -
Note Full-length provirus integrated into the human genome.
Protein ERVWE1 encodes a glycosylated envelope protein, Syncytin-1 with a receptor-binding function; it promotes cell proliferation in the presence of TGF-beta and may exert an anti-apoptotic function (Gimenez and Mallet, 2007).
Gene NameIGH (Immunoglobulin Heavy)
Location 14q32.33
Protein Immunoglobulin heavy chain (see Lefranc, 2003).

Result of the chromosomal anomaly

Hybrid gene
Description Chromosome junction between the switch region of the Cμ locus of IGH and the 5' upstream the 5' LTR (long terminal repeat) of ERVWE1 (94 bases upstream). However, the CDK6 gene lies 127 kb downstream ERVWE1, and it cannot be excluded that the target of the Immunoglobulin enhancer is CDK6 instead of ERVWE1 (ERVWE1 is from 91 935 631 to 91 945 186, and CDK6 from 92 072 173 to 92 303 877).
  
Fusion Protein
Oncogenesis There is not yet any clear explanation on the oncogenic process caused by this translocation.
  

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

Dysregulation of cyclin dependent kinase 6 expression in splenic marginal zone lymphoma through chromosome 7q translocations.
Corcoran MM, Mould SJ, Orchard JA, Ibbotson RE, Chapman RM, Boright AP, Platt C, Tsui LC, Scherer SW, Oscier DG.
Oncogene. 1999 Nov 4;18(46):6271-7.
PMID 10597225
 
ERVWE1 (Endogenous Retroviral family W, Env(C7), member 1).
Gimenez J, Mallet F.
Atlas Genet Cytogenet Oncol Haematol. September 2007 http://AtlasGeneticsOncology.org/Genes/ERVWE1ID40497ch7q21.html
 
In B-cell chronic lymphocytic leukemias, 7q21 translocations lead to overexpression of the CDK6 gene.
Hayette S, Tigaud I, Callet-Bauchu E, Ffrench M, Gazzo S, Wahbi K, Callanan M, Felman P, Dumontet C, Magaud JP, Rimokh R.
Blood. 2003 Aug 15;102(4):1549-50.
PMID 12900351
 
IGH (Immunoglobulin Heavy).
Lefranc MP.
Atlas Genet Cytogenet Oncol Haematol. September 2003 http://AtlasGeneticsOncology.org/Genes/IgHID40.html
 
Possible co-existence of RAS activation and monosomy 7 in the leukaemic transformation of myelodysplastic syndromes.
Stephenson J, Lizhen H, Mufti GJ.
Leuk Res. 1995 Oct;19(10):741-8.
PMID 7500652
 
Involvement of a human endogenous retroviral sequence (THE-7) in a t(7;14)(q21;q32) chromosomal translocation associated with a B cell chronic lymphocytic leukemia.
Wahbi K, Hayette S, Callanan M, Gadoux M, Charrin C, Magaud JP, Rimokh R.
Leukemia. 1997 Aug;11(8):1214-9.
PMID 9264372
 

Citation

This paper should be referenced as such :
Huret, JL
t(7;14)(q21;q32) ERVWE1/IgH
Atlas Genet Cytogenet Oncol Haematol. 2010;14(1):73-74.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Anomalies/t0714q21q32ID1346.html


Translocations implicated (Data extracted from papers in the Atlas)

 t(7;14)(q21;q32) ERVW-1/IGH

External links

arrayMap (UZH-SIB Zurich)
Mitelman databaset(7;14)(q21;q32) [Case List]    t(7;14)(q21;q32) [Association List] Mitelman database (CGAP - NCBI)
arrayMap[select an item]
 
 
Disease databaset(7;14)(q21;q32) ERVW-1/IgH
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 : Tue Sep 26 12:36:10 CEST 2017


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

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.