t(14;14)(q11;q32) CEBPE/IGH
inv(14)(q11q32) CEBPE/IGH

2008-05-01   Jean-Loup Huret  

1.Genetics, Dept Medical Information, University of Poitiers; CHU Poitiers Hospital, F-86021 Poitiers, France

Clinics and Pathology

Disease

CD10+ acute lymphoblastic leukaemia (B-ALL)

Epidemiology

Only 4 cases to date of t(14;14)(q11;q32)/inv(14)(q11q32) with CEBPE and IGH involvements (Akasaka et al., 2007). Five other cases of t(14;14)(q11;q32)/inv(14)(q11q32) in B-cell leukemias are known (Denny et al., 1986; Speleman et al., 1991; Chervinsky et al., 1995; Wong et al., 1995; Thomas et al., 2001), but without proof that CEBPE was involved. As a matter of fact, a t(4;11)(q21;q23) was found in 2 of these cases, and a t(8;14)(q24;q32) in another case; this latter group is certainly heterogeneous.

Clinics

The four patients were male patients, aged 15, 25, 45, and 45 yrs, with a WBC under 50 x 109/l. Survival is available only for two cases: 19 mths+ and 48 mths+, resembling the relatively fair survival of patients with a t(8;14)(q11;q32) CEBPD/IGH translocation. One case was a Down syndrome patient; this may not be anecdotical, since more than 1/4 of t(8;14)(q11;q32) case are also Down syndrome patients.

Genes Involved and Proteins

Gene name
CEBPE (CCAAT/enhancer binding protein epsilon)
Location
14q11.2
Protein description
DNA-binding protein. CCAAT enhancer-binding protein (CEBP) transcription factors are a family of 6 multifunctional basic leucine zipper (bZIP) transcription factors. The 5 other CEBPs are: CEBPA (19q13), CEBPB (20q13), CEBPD (8q11), CEBPG (19q13), all four equally implicated in leukemias, and DDIT3/CHOP/CEBP zeta (12q13), so far known to be involved in solid tumours (liposarcoma). These transcription factors play a key role in cellular differentiation, in particular in the control of myeloid differentiation. CEBPE is composed of a N-term transactivation domain, a negative regulatory domain, a DNA-binding basic motif, and a leucine-zipper domain in C-term (Ramji et al., 2002; Nerlov et al., 2007).
Gene name
IGH (Immunoglobulin Heavy)
Location
14q32.33

Result of the Chromosomal Anomaly

Oncogenesis

Overexpression of the CEBP gene.

Highly cited references

Article Bibliography

Summary

Note

This chromosome anomaly should not be confused with the t(14;14)(q11;q32)/inv(14)(q11q32) found in T-cell diseases, which implicates TCR alpha or TCR delta (14q11) and TCL1A (14q32).

Citation

Jean-Loup Huret

t(14;14)(q11;q32) CEBPE/IGH
inv(14)(q11q32) CEBPE/IGH

Atlas Genet Cytogenet Oncol Haematol. 2008-05-01

Online version: http://atlasgeneticsoncology.org/haematological/1438/inv(14)(q11q32)