t(7;14)(q21;q32) ERVW-1/IgH
2009-02-01 Jean-Loup Huret Affiliation1.Genetics, Dept Medical Information, University of Poitiers; CHU Poitiers Hospital, F-86021 Poitiers, France
Clinics and Pathology
Disease
Chronic lymphocytic leukaemia (CLL)
Epidemiology
One case to date, a 64-year-old female patient (Wahbi et al., 1997).
Genes Involved and Proteins
Gene name
ERVW-1 (Endogenous Retroviral family W, Env (C7), member 1)
Location
-
Note
Full-length provirus integrated into the human genome.
Protein description
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 name
IGH (Immunoglobulin Heavy)
Location
14q32.33
Protein description
Immunoglobulin heavy chain (see Lefranc, 2003).
Result of the Chromosomal Anomaly
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).
Oncogenesis
There is not yet any clear explanation on the oncogenic process caused by this translocation.
Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|
| 10597225 | 1999 | Dysregulation of cyclin dependent kinase 6 expression in splenic marginal zone lymphoma through chromosome 7q translocations. | Corcoran MM et al |
| 12900351 | 2003 | In B-cell chronic lymphocytic leukemias, 7q21 translocations lead to overexpression of the CDK6 gene. | Hayette S et al |
| 7500652 | 1995 | Possible co-existence of RAS activation and monosomy 7 in the leukaemic transformation of myelodysplastic syndromes. | Stephenson J et al |
| 9264372 | 1997 | 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 et al |
Summary
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).
Citation
Jean-Loup Huret
t(7;14)(q21;q32) ERVW-1/IgH
Atlas Genet Cytogenet Oncol Haematol. 2009-02-01
Online version: http://atlasgeneticsoncology.org/haematological/1346/t(7
